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MUT Gene

protein-coding   GIFtS: 67
GCID: GC06M049445

Methylmalonyl CoA Mutase

(Previous name: methylmalonyl Coenzyme A mutase)
  See MUT-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Methylmalonyl CoA Mutase1 2
MCM2 3 5
Methylmalonyl Coenzyme A Mutase1 2
Methylmalonyl-CoA Isomerase2 3
EC 5.4.99.23 8
Methylmalonyl-CoA Mutase, Mitochondrial2

External Ids:    HGNC: 75261   Entrez Gene: 45942   Ensembl: ENSG000001460857   OMIM: 6090585   UniProtKB: P220333   

Export aliases for MUT gene to outside databases

Previous GC identifers: GC06M049401 GC06M049506 GC06M049126


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MUT Gene:
This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is
a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in
other species this enzyme may have different functions. Mutations in this gene may lead to various types of
methylmalonic aciduria. (provided by RefSeq, Jul 2008)

GeneCards Summary for MUT Gene:
MUT (methylmalonyl CoA mutase) is a protein-coding gene. Diseases associated with MUT include methylmalonic acidemia, and mut-related methylmalonic acidemia. GO annotations related to this gene include methylmalonyl-CoA mutase activity and cobalamin binding.

UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033
Function: Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via
propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species

Gene Wiki entry for MUT (Methylmalonyl-CoA mutase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MUT gene promoter:
         SRF   SRF (504 AA)   CUTL1   E47   MEF-2A   FAC1   Cart-1   Hand1   aMEF-2   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMUT promoter sequence
   Search Chromatin IP Primers for MUT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MUT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p12.3   Ensembl cytogenetic band:  6p12.3   HGNC cytogenetic band: 6p21

MUT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUT gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M049445:  view genomic region     (about GC identifiers)

Start:
49,398,073 bp from pter      End:
49,431,041 bp from pter
Size:
32,969 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033 (See protein sequence)
Recommended Name: Methylmalonyl-CoA mutase, mitochondrial precursor  
Size: 750 amino acids; 83134 Da
Cofactor: Adenosylcobalamin
Subunit: Homodimer
3 PDB 3D structures from and Proteopedia for MUT:
2XIJ (3D)        2XIQ (3D)        3BIC (3D)    
Secondary accessions: A8K953 Q5SYZ3 Q96B11 Q9UD64

Explore the universe of human proteins at neXtProt for MUT: NX_P22033

Explore proteomics data for MUT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MUT (P22033) (see all 34)
     TQSLHTN  WHTPEGI  LFLLSPH  MEIAKMRA 


    See MUT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000246.2  
    ENSEMBL proteins: 
     ENSP00000274813  
    Reactome Protein details: P22033

    MUT Human Recombinant Protein Products:

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    Novus Biologicals MUT Proteins
    Novus Biologicals MUT Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MUT

     
    Search eBioscience for Proteins for MUT 

     
    antibodies-online proteins for MUT (4 products) 

     
    antibodies-online peptides for MUT

    MUT Antibody Products:

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    antibodies-online antibodies for MUT (9 products) 

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    Cloud-Clone Corp. ELISAs for MUT
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    antibodies-online kits for MUT (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR006098 MMCoA_mutase_a_cat
     IPR014348 Cbl-dep_enz_cat-sub
     IPR006099 MeMalonylCoA_mutase_a/b_cat
     IPR016176 Cbl-dep_enz_cat
     IPR006159 Acid_CoA_mut_C

    Graphical View of Domain Structure for InterPro Entry P22033

    ProtoNet protein and cluster: P22033

    2 Blocks protein domains:
    IPB006099 Methylmalonyl-CoA mutase
    IPB006158 Coenzyme B12-binding


    UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033
    Similarity: Belongs to the methylmalonyl-CoA mutase family
    Similarity: Contains 1 B12-binding domain


    Find genes that share domains with MUT           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MUTA_HUMAN, P22033
    Function: Involved in the degradation of several amino acids, odd-chain fatty acids and cholesterol via
    propionyl-CoA to the tricarboxylic acid cycle. MCM has different functions in other species
    Catalytic activity: (R)-methylmalonyl-CoA = succinyl-CoA

         Genatlas biochemistry entry for MUT:
    methylmalonyl-CoA mutase

         Enzyme Number (IUBMB): EC 5.4.99.21 2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004494methylmalonyl-CoA mutase activity IEA--
    GO:0016853isomerase activity ----
    GO:0016866intramolecular transferase activity ----
    GO:0031419cobalamin binding IEA--
         
    Find genes that share ontologies with MUT           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for MUT:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras  Upregulation of Wnt/beta-caten 

         14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mut):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     nervous system  other  renal/urinary system  respiratory system 

    Find genes that share phenotypes with MUT           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for MUT: Muttm1Pai Muttm1Cpv

       genOway: Develop your customized and physiologically relevant rodent model for MUT

    miRNA
    Products:
        
    miRTarBase miRNAs that target MUT:
    hsa-mir-615-3p (MIRT039809), hsa-mir-155-5p (MIRT020551)

    Block miRNA regulation of human, mouse, rat MUT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MUT (see all 16):
    hsa-miR-548w hsa-miR-548j hsa-miR-320a hsa-miR-559 hsa-miR-548i hsa-miR-548h hsa-miR-548c-5p hsa-miR-548k
    SwitchGear 3'UTR luciferase reporter plasmidMUT 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MUT
    Predesigned siRNA for gene silencing in human, mouse, rat MUT

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MUT

    Clone
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    OriGene clones in human, mouse for MUT (see all 6)
    OriGene ORF clones in mouse, rat for MUT
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    GenScript: all cDNA clones in your preferred vector: MUT (NM_000255)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MUT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MUT

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MUTA_HUMAN, P22033: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus2
    endoplasmic reticulum1
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS2567699
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with MUT           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MUT About   (see all 8)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    Mitochondrial Fatty Acid Beta-Oxidation0.00
    Propionyl-CoA catabolism0.00
    methylmalonyl pathway0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    4Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    Propanoate metabolism0.31
    5superpathway of methionine degradation
    superpathway of methionine degradation
    2-oxobutanoate degradation I0.00


    Find genes that share SuperPaths with MUT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for MUT
        methylmalonyl pathway
    superpathway of methionine degradation
    2-oxobutanoate degradation I

    4 Reactome Pathways for MUT
        Propionyl-CoA catabolism
    Defective MMAA causes methylmalonic aciduria type cblA
    Cobalamin (Cbl, vitamin B12) transport and metabolism
    Defective MUT causes methylmalonic aciduria mut type


    5 Kegg Pathways  (Kegg details for MUT):
        Valine, leucine and isoleucine degradation
    Glyoxylate and dicarboxylate metabolism
    Propanoate metabolism
    Metabolic pathways
    Carbon metabolism

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MUT: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MUT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for MUT (P220332, 3 ENSP000002748134) via UniProtKB, MINT, STRING, and/or I2D (see all 258)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MMAAQ8IVH43, ENSP000002813174I2D: score=1 STRING: ENSP00000281317
    SUCLA2Q9P2R72, ENSP000003679234MINT-8079030 STRING: ENSP00000367923
    ATG101Q9BSB43I2D: score=1 
    PCBD1P614573I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0008152metabolic process ----
    GO:0009235cobalamin metabolic process TAS--

    Find genes that share ontologies with MUT           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MUT (MUTA)

    6 HMDB Compounds for MUT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosylcobalamin(5'-Deoxy-5'-adenosyl)cobamide coenzyme (see all 15)13870-90-1--
    Cobalamin5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole (see all 15)13408-78-1--
    CobaltCo (see all 6)7440-48-4--
    CyanocobalaminDimethylbenzimidazoylcobamide (see all 92)68-19-9--
    R-Methylmalonyl-CoA 73173-92-9--
    Succinyl-CoACoenzyme A S-(hydrogen succinate) (see all 24)604-98-8--

    2 DrugBank Compounds for MUT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    HydroxocobalaminHydroxomin (see all 2)13422-51-0targetcofactor36882 7599160 11955068 11752352 18565 8741039
    CyanocobalaminCyanocob(III)alamin (see all 3)68-19-9targetcofactor19904199 17011224 16281286 16813422 16305240

    Selected Novoseek inferred chemical compound relationships for MUT gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenosylcobalamin 94.5 30 10377254 (2), 9285782 (2), 9554742 (1), 17410422 (1) (see all 18)
    l-methylmalonyl-coa 91.1 7 1979711 (2), 1970332 (1), 9285782 (1), 16823967 (1)
    cobalamin 79.6 16 10377254 (2), 9242908 (1), 16150626 (1), 17075691 (1) (see all 10)
    methylmalonic acid 79.4 3 8929440 (2), 8017644 (1)
    methylcobalamin 64.9 3 10377254 (1), 16150626 (1)
    vitamin b12 64.5 6 9554742 (1), 18375549 (1), 16150626 (1), 20174775 (1) (see all 5)
    propionate 60.2 10 1363155 (4), 10518277 (1), 8929440 (1), 19699272 (1)
    methionine 41.9 7 9242908 (1), 10377254 (1), 16150626 (1), 20174775 (1) (see all 7)
    carnitine 38.3 1 1363155 (1)
    cobalt 35.8 2 9242908 (2)



    Find genes that share compounds with MUT           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MUT gene: 
    NM_000255.3  

    Unigene Cluster for MUT:

    Methylmalonyl CoA mutase
    Hs.485527  [show with all ESTs]
    Unigene Representative Sequence: NM_000255
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000274813(uc003ozg.4)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MUT (see all 16):
    hsa-miR-548w hsa-miR-548j hsa-miR-320a hsa-miR-559 hsa-miR-548i hsa-miR-548h hsa-miR-548c-5p hsa-miR-548k
    SwitchGear 3'UTR luciferase reporter plasmidMUT 3' UTR sequence
    Inhib. RNA
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    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MUT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MUT
      QuantiTect SYBR Green Assays in human, mouse, rat MUT
      QuantiFast Probe-based Assays in human, mouse, rat MUT

    Additional mRNA sequence: 

    AK292568.1 AK312611.1 BC016282.1 BT007434.1 M65131.1 

    7 DOTS entries:

    DT.452288  DT.95275002  DT.102828174  DT.92440605  DT.92440604  DT.40309424  DT.100814317 

    Selected AceView cDNA sequences (see all 286):

    AV651446 BF196499 CB157929 AA761038 CA444307 AI274590 AI433712 AU116803 
    BU189799 AV651416 AI654083 BU615544 AV654874 AI022429 BU193611 AU143086 
    AV651473 BU609220 BI766242 BI757165 AL524144 BU616598 F04009 BM854972 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MUT    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                                        -                                                   
    SP2:                                                                                                            
    SP3:                    -                                                                                       
    SP4:                    -                                                                                       


    ECgene alternative splicing isoforms for MUT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MUT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGATGTATT
    MUT Expression
    About this image


    MUT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    MUT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MUT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.485527
        Pathway & Disease-focused RT2 Profiler PCR Arrays including MUT: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat

    Primer
    Products:
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    OriGene qSTAR qPCR primer pairs in human, mouse for MUT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MUT
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    QuantiFast Probe-based Assays in human, mouse, rat MUT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MUT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MUT gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mut1 , 5 methylmalonyl-Coenzyme A mutase1, 5 88.99(n)1
    95.05(a)1
      17 (19.55 cM)5
    178501  NM_008650.31  NP_032676.21 
     409346855 
    chicken
    (Gallus gallus)
    Aves MUT1 methylmalonyl CoA mutase 79.46(n)
    87.57(a)
      422049  XM_004935917.1  XP_004935974.1 
    lizard
    (Anolis carolinensis)
    Reptilia MUT6
    methylmalonyl CoA mutase
    87(a)
    1 ↔ 1
    1(139474631-139500452)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.48912 Xenopus laevis transcribed sequence with moderate similarity more 78.09(n)    AW644910.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.70552 Transcribed sequence with moderate similarity to protein more 77.18(n)    CK027470.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK1058.13
    mmcm-11
    Methylmalonyl-coA mutase3
    mmcm-11
    69(a)3
    66.48(n)1
    70.92(a)1
      III(3975202-3979463)3
    1755031  NM_065385.61  NP_497786.21 


    ENSEMBL Gene Tree for MUT (if available)
    TreeFam Gene Tree for MUT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MUT (see all 749)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219182571,2,,4
    CMethylmalonic aciduria type mut (MMAM)4 pathogenic149340915(-) CCATCC/TGCCAG 2 R C mis10--------
    rs1219182511,2,,4
    CMethylmalonic aciduria type mut (MMAM)4 pathogenic149340959(-) CACACA/GTGGAC 2 H R mis10--------
    VAR_0266104
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266102 L R mis40--------
    VAR_0266164
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266162 H N mis40--------
    VAR_0224124
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224122 Q R mis40--------
    VAR_0224044
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224042 S N mis40--------
    VAR_0044294
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044292 L R mis40--------
    VAR_0266014
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0266012 A E mis40--------
    VAR_0224114
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0224112 K N mis40--------
    VAR_0044224
    Methylmalonic aciduria type mut (MMAM)4--see VAR_0044222 G E mis40--------

    HapMap Linkage Disequilibrium report for MUT (49398073 - 49431041 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MUT: --
    Human Gene Mutation Database (HGMD): MUT
    Locus Specific Mutation Databases (LSDB): MUT

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MUT
    DNA2.0 Custom Variant and Variant Library Synthesis for MUT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609058   
    OMIM disorders: 251000  
    UniProtKB/Swiss-Prot: MUTA_HUMAN, P22033
  • Methylmalonic aciduria type mut (MMAM) [MIM:251000]: An often fatal disorder of organic acid metabolism.
    Common clinical features include lethargy, vomiting, failure to thrive, hypotonia, neurological deficit and early
    death. Two forms of the disease are distinguished by the presence (mut-) or absence (mut0) of residual enzyme
    activity. Mut0 patients have more severe neurological manifestations of the disease than do MUT- patients. MMAM
    is unresponsive to vitamin B12 therapy. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 5 diseases for MUT:    
    About MalaCards
    methylmalonic acidemia    mut-related methylmalonic acidemia    methylmalonyl-coenzyme a mutase deficiency    cblf
    propionic acidemia

    5 diseases from the University of Copenhagen DISEASES database for MUT:
    Methylmalonic acidemia     Vitamin B12 deficiency     Propionic acidemia     Homocystinuria
    Megaloblastic anemia

    Find genes that share disorders with MUT           About GenesLikeMe

    3 Novoseek inferred disease relationships for MUT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    methylmalonic aciduria 97.1 43 12402345 (2), 19199343 (2), 19806564 (2), 16281286 (2) (see all 30)
    metabolic disorder 27.7 3 16823967 (1), 18052792 (1), 7833369 (1)
    acidosis 24.7 2 7833369 (1)

    Genatlas disease: MUT
    hyperglycinemia,ketotic methylmalonic acidemia

    GeneTests: MUT
    GeneReviews: MUT
    Genetic Association Database (GAD): MUT
    Human Genome Epidemiology (HuGE) Navigator: MUT (24 documents)

    Export disorders for MUT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MUT gene, integrated from 10 sources (see all 153) (see top 10):
    (articles sorted by number of sources associating them with MUT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. (PubMed id 16281286)1, 2, 7, 9 Worgan L.C.... Rosenblatt D.S. (Hum. Mutat. 2006)
    2. [Analysis of the MUT gene mutations in patients with methylmalonic acidemia]. (PubMed id 19806564)1, 4, 9 Wang F....Gu X. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009)
    3. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. (PubMed id 15781192)1, 2, 9 Martinez M.A....Perez B. (Mol. Genet. Metab. 2005)
    4. Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12. (PubMed id 9503014)1, 3, 9 MA1cher G....Zerres K. (Genomics 1998)
    5. Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria. (PubMed id 1346616)1, 2, 9 Crane A.M.... Ledley F.D. (J. Clin. Invest. 1992)
    6. Structure of the human methylmalonyl-CoA mutase (MUT) locus. (PubMed id 1980486)1, 2, 9 Nham S.U.... Ledley F.D. (Genomics 1990)
    7. Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. (PubMed id 15643616)1, 2, 9 Acquaviva C.... Elion J. (Hum. Mutat. 2005)
    8. Mutation analysis of the MCM gene in Israeli patients with mut(0) disease. (PubMed id 11350191)1, 2, 9 Berger I.... Elpeleg O.N. (Mol. Genet. Metab. 2001)
    9. mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. (PubMed id 10923046)1, 2, 9 Fuchshuber A.... Hildebrandt F. (Hum. Mutat. 2000)
    10. Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. (PubMed id 9285782)1, 2, 9 Janata J.... Fenton W.A. (Hum. Mol. Genet. 1997)
    11. Clustering of mutations in methylmalonyl CoA mutase associated with mut-methylmalonic acidemia. (PubMed id 7912889)1, 2, 9 Crane A.M. and Ledley F.D. (Am. J. Hum. Genet. 1994)
    12. Seven novel mutations in mut methylmalonic aciduria. (PubMed id 9554742)1, 2, 9 Adjalla C.E.... Rosenblatt D.S. (Hum. Mutat. 1998)
    13. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    14. Associations of folate, vitamin B12, homocysteine, and folate-pathway polymorphisms with prostate-specific antigen velocity in men with localized prostate cancer. (PubMed id 20852008)1, 4 Collin S.M....Martin R.M. (amp 2010)
    15. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
    16. Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. (PubMed id 20031578)1, 4 ParAc G....Ridker P.M. (Circ Cardiovasc Genet 2009)
    17. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    18. Polymorphisms within the vitamin B12 dependent methylmalonyl-coA mutase are not risk factors for neural tube defects. (PubMed id 14654360)1, 4 Parle-McDermott A....Kirke P.N. (Mol. Genet. Metab. 2003)
    19. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    20. Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. (PubMed id 8990001)1, 2 Ledley F.D. and Rosenblatt D.S. (Hum. Mutat. 1997)
    21. Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria. (PubMed id 7909321)1, 2 Qureshi A.A....Rosenblatt D.S. (J. Clin. Invest. 1994)
    22. Phenotype of disease in three patients with identical mutations in methylmalonyl CoA mutase. (PubMed id 1351030)1, 2 Crane A.M.... Ledley F.D. (Hum. Genet. 1992)
    23. Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation. (PubMed id 1670635)1, 2 Raff M.L.... Rosenblatt D.S. (J. Clin. Invest. 1991)
    24. Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning. (PubMed id 1977311)1, 2 Jansen R. and Ledley F.D. (Am. J. Hum. Genet. 1990)
    25. Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction. (PubMed id 2567699)1, 2 Jansen R.... Ledley F.D. (Genomics 1989)
    26. Linkage relationships of the human methylmalonyl CoA mutase to the HLA and D6S4 loci on chromosome 6. (PubMed id 2907507)1, 3 Zoghbi H.Y....Ledley F.D. (Genomics 1988)
    27. Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia. (PubMed id 17410422)1, 9 Keeratichamroen S....Svasti J. (Biochem. Genet. 2007)
    28. Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations. (PubMed id 12402345)1, 9 Peters H.L....Ioannou P.A. (Hum. Mutat. 2002)
    29. Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. (PubMed id 17113806)1, 9 Lempp T.J....Baumgartner M.R. (Mol. Genet. Metab. 2007)
    30. Structure-based perspectives on B12-dependent enzymes. (PubMed id 9242908)1, 9 Ludwig M.L. and Matthews R.G. (Annu. Rev. Biochem. 1997)
    31. Mitochondrial dysfunction in mut methylmalonic acidemia. (PubMed id 19088183)1, 9 Chandler R.J....Venditti C.P. (FASEB J. 2009)
    32. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. (PubMed id 17957493)1, 9 Merinero B....Ugarte M. (J. Inherit. Metab. Dis. 2008)
    33. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). (PubMed id 17597648)1, 9 HAPrster F....Baumgartner E.R. (Pediatr. Res. 2007)
    34. A switch III motif relays signaling between a B12 enzyme and its G-protein chaperone. (PubMed id 23873214)1 Lofgren M....Banerjee R. (Nat. Chem. Biol. 2013)
    35. Mutagenesis of a conserved glutamate reveals the contribution of electrostatic energy to adenosylcobalamin co-C bond homolysis in ornithine 4,5-aminomutase and methylmalonyl-CoA mutase. (PubMed id 23311430)1 Makins C....Wolthers K.R. (Biochemistry 2013)
    36. Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease. (PubMed id 23824729)1 van Meurs J.B....Ahmadi K.R. (Am. J. Clin. Nutr. 2013)
    37. [Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia]. (PubMed id 23045948)1 MAcndez S.T....Flores M.E. ( organo del Hospital de Enfermedades de la NutriciĆ³n 2012)
    38. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    39. Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein. (PubMed id 21138732)1 Takahashi-A8A+iguez T....Flores M.E. (Biochem. Biophys. Res. Commun. 2011)
    40. Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase. (PubMed id 21604717)1 Lofgren M. and Banerjee R. (Biochemistry 2011)
    41. Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. (PubMed id 20876572)1 Froese D.S.... Yue W.W. (J. Biol. Chem. 2010)
    42. Vitamin B12 and older adults. (PubMed id 19904199)7 Stover P.J. (Curr Opin Clin Nutr Metab Care 2010)
    43. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (EMBO J. 2010)
    44. Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. (PubMed id 19744961)1 Hazra A....Hunter D.J. (Hum. Mol. Genet. 2009)
    45. Brain damage by mild metabolic derangements in methylmalonic acidemia. (PubMed id 18940555)1 Lee N.C....Hwu W.L. (Pediatr. Neurol. 2008)
    46. Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism. (PubMed id 17011224)7 Moras E....Rosenblatt D.S. (Mol. Genet. Metab. 2007)
    47. Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduria. (PubMed id 17728257)1 Hubbard P.A....Drennan C.L. (J. Biol. Chem. 2007)
    48. Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. (PubMed id 17966092)1 RincA^n A....PAcrez B. (Am. J. Hum. Genet. 2007)
    49. Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature. (PubMed id 17401587)1 Lubrano R....Berloco P. (Pediatr. Nephrol. 2007)
    50. Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl. (PubMed id 17445044)1 Oyama C....Takada G. (Pediatr Int 2007)
    51. Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase. (PubMed id 16641088)1 Padovani D....Banerjee R. (J. Biol. Chem. 2006)
    52. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    53. DFT analysis of co-alkyl and co-adenosyl vibrational modes in B12-cofactors. (PubMed id 16813422)7 Kozlowski P.M....Spiro T.G. (Inorg Chem 2006)
    54. Co-C bond activation in methylmalonyl-CoA mutase by stabilization of the post-homolysis product Co2+ cobalamin. (PubMed id 16305240)7 Brooks A.J....Brunold T.C. (J. Am. Chem. Soc. 2005)
    55. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    56. The human plasma proteome: a nonredundant list developed by combination of four separate sources. (PubMed id 14718574)1 Anderson N.L....Lobley A. (amp 2004)
    57. TTD: Therapeutic Target Database. (PubMed id 11752352)7 Chen X....Chen Y.Z. (Nucleic Acids Res. 2002)
    58. Metabolic engineering of a methylmalonyl-CoA mutase-epimerase pathway for complex polyketide biosynthesis in Escherichia coli. (PubMed id 11955068)7 Dayem L.C....Kealey J.T. (Biochemistry 2002)
    59. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    60. N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients. (PubMed id 11528502)1 Acquaviva C....Elion J. (Eur. J. Hum. Genet. 2001)
    61. A common mutation among blacks with mut- methylmalonic aciduria. (PubMed id 9452100)2 Adjalla C.E.... Rosenblatt D.S. (Hum. Mutat. Suppl. 1998)
    62. Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease? (PubMed id 8741039)7 Mayatepek E....Bremer H.J. (Eur. J. Pediatr. 1996)
    63. The dynamics of cobalamin utilization in L-1210 mouse leukemia cells: a model of cellular cobalamin metabolism. (PubMed id 7599160)7 Quadros E.V. and Jacobsen D.W. (Biochim. Biophys. Acta 1995)
    64. Methylmalonic Acidemia (PubMed id 20301409)1 Pagon R.A....Stephens K. (1993)
    65. Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines. (PubMed id 2453061)1 Ledley F.D....Allen R.H. (Proc. Natl. Acad. Sci. U.S.A. 1988)
    66. Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import. (PubMed id 2881300)1 Fenton W.A....Rosenberg L.E. (Proc. Natl. Acad. Sci. U.S.A. 1987)
    67. Purification and properties of methylmalonyl coenzyme A mutase from human liver. (PubMed id 6124211)1 Fenton W.A....Rosenberg L.E. (Arch. Biochem. Biophys. 1982)
    68. Isolation and characterization of methylmalonyl-CoA mutase from human placenta. (PubMed id 6102092)1 Kolhouse J.F....Allen R.H. (J. Biol. Chem. 1980)
    69. Inborn errors of cobalamin metabolism: effect of cobalamin supplementation in culture on methylmalonyl CoA mutase activity in normal and mutant human fibroblasts. (PubMed id 36882)7 Willard H.F. and Rosenberg L.E. (Biochem. Genet. 1979)
    70. Metabolic fate of cyanocobalamin taken up by Spirometra mansonoides spargana. (PubMed id 18565)7 Tkachuck R.D....Mueller J.F. (J. Parasitol. 1977)
    71. Intracellular localization of hepatic propionyl-CoA carboxylase and methylmalonyl-CoA mutase in humans and normal and vitamin B12 deficient rats. (PubMed id 24458)1 Frenkel E.P. and Kitchens R.L. (Br. J. Haematol. 1975)
    72. Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia. (PubMed id 7951229)9 Ogasawara M....Narisawa K. (Hum. Mol. Genet. 1994)
    73. Gene induction for the treatment of methylmalonic aciduria. (PubMed id 19199343)9 Hu R....Peters H.L. (J Gene Med 2009)
    74. Primary structure and activity of mouse methylmalonyl-CoA mutase. (PubMed id 1978672)9 Wilkemeyer M.F....Ledley F.D. (Biochem. J. 1990)
    75. Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients. (PubMed id 9929975)9 Mikami H....Narisawa K. (J. Hum. Genet. 1999)
    76. Mobilization of chromatin-bound Mcm proteins by micrococcal nuclease. (PubMed id 9792452)9 Richter A....Knippers R. (Biol. Chem. 1998)
    77. Properties of the human nuclear protein p85Mcm. Expression, nuclear localization and interaction with other Mcm proteins. (PubMed id 8631321)9 Schulte D....Knippers R. (Eur. J. Biochem. 1996)
    78. Methylmalonyl-CoA mutase induction by cerebral ischemia and neurotoxicity of the mitochondrial toxin methylmalonic acid. (PubMed id 8929440)9 Narasimhan P....Sharp F.R. (J. Neurosci. 1996)
    79. Human protein MCM6 on HeLa cell chromatin. (PubMed id 9516426)9 Holthoff H.P.... Knippers R. (J. Biol. Chem. 1998)
    80. [Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP]. (PubMed id 7602808)9 Toyo-Oka Y....Ohtani H. (Rinsho Byori 1995)
    81. Overexpression of human methylmalonyl CoA mutase in mice after in vivo gene transfer with asialoglycoprotein/polylysine/DNA complexes. (PubMed id 7833369)9 Stankovics J....Ledley F.D. (Hum. Gene Ther. 1994)
    82. Propionate metabolism in cultured human cells after overexpression of recombinant methylmalonyl CoA mutase: implications for somatic gene therapy. (PubMed id 1363155)9 Wilkemeyer M....Ledley F.D. (Somat. Cell Mol. Genet. 1992)
    83. CE assay of methylmalonyl-coenzyme-a mutase activity. (PubMed id 17516582)9 Carlucci F....Tabucchi A. (Electrophoresis 2007)
    84. Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. (PubMed id 17075691)9 Sakamoto O....Tsuchiya S. (J. Hum. Genet. 2007)
    85. Three novel and six common mutations in 11 patients with methylmalonic acidemia. (PubMed id 16490061)9 Kobayashi A....Takahashi H. (Pediatr Int 2006)
    86. Minichromosome maintenance (Mcm) proteins, cyclin B1 and D1, phosphohistone H3 and in situ DNA replication for functional analysis of vulval intraepithelial neoplasia. (PubMed id 12610511)9 Davidson E.J....Stern P.L. (Br. J. Cancer 2003)
    87. Enhanced expression of Mcm proteins in cancer cells derived from uterine cervix. (PubMed id 12631269)9 Ishimi Y....Song S.Y. (Eur. J. Biochem. 2003)
    88. Inhibition of Mcm4,6,7 helicase activity by phosphorylation with cyclin A/Cdk2. (PubMed id 10748114)9 Ishimi Y....Kitagawa M. (J. Biol. Chem. 2000)
    89. Theoretical analysis of the diradical nature of adenosylcobalamin cofactor-tyrosine complex in B12-dependent mutases: inspiring PCET-driven enzymatic catalysis. (PubMed id 20387785)9 Kozlowski P.M....Yoshizawa K. (J Phys Chem B 2010)
    90. Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain. (PubMed id 19699272)9 Ballhausen D....Braissant O. (Neuroscience 2009)
    91. Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). (PubMed id 17823972)9 Gradinger A.B....Rosenblatt D.S. (Hum. Mutat. 2007)
    92. DNA replication in protein extracts from human cells requires ORC and Mcm proteins. (PubMed id 16537544)9 Baltin J....Knippers R. (J. Biol. Chem. 2006)
    93. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. (PubMed id 16410054)9 Lerner-Ellis J.P....Rosenblatt D.S. (Mol. Genet. Metab. 2006)
    94. Human cytomegalovirus infection leads to accumulation of geminin and inhibition of the licensing of cellular DNA replication. (PubMed id 12551974)9 Biswas N....Spector D.H. (J. Virol. 2003)
    95. Human Mcm proteins at a replication origin during the G1 to S phase transition. (PubMed id 12364596)9 Schaarschmidt D....Knippers R. (Nucleic Acids Res. 2002)
    96. Stability of the replicative Mcm3 protein in proliferating and differentiating human cells. (PubMed id 9633535)9 Musahl C....Knippers R. (Exp. Cell Res. 1998)
    97. A human homologue of the yeast replication protein Cdc21. Interactions with other Mcm proteins. (PubMed id 7601140)9 Musahl C.... Knippers R. (Eur. J. Biochem. 1995)
    98. Localization of the murine methylmalonyl CoA mutase (Mut) locus on chromosome 17 by in situ hybridization. (PubMed id 1973376)9 Threadgill D.W....Ledley F.D. (Cytogenet. Cell Genet. 1990)
    99. Restriction fragment length polymorphisms at the methylmalonyl CoA mutase locus in normal Chinese. (PubMed id 1979711)9 Wang T.R....Tsai H.M. (Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1990)
    100. Stop codon read-through of a methylmalonic aciduria mutation. (PubMed id 19427250)9 Buck N.E....Peters H.L. (Mol. Genet. Metab. 2009)
    101. Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria). (PubMed id 19862841)9 PAcrez B....Desviat L.R. (Hum. Mutat. 2009)
    102. Subunit organization of Mcm2-7 and the unequal role of active sites in ATP hydrolysis and viability. (PubMed id 18662997)9 Bochman M.L....Schwacha A. (Mol. Cell. Biol. 2008)
    103. Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia. (PubMed id 18052792)9 Chandler R.J. and Venditti C.P. (Hum. Gene Ther. 2008)
    104. Functional characterization of a vitamin B12-dependent methylmalonyl pathway in Mycobacterium tuberculosis: implications for propionate metabolism during growth on fatty acids. (PubMed id 18375549)9 Savvi S....Dawes S.S. (J. Bacteriol. 2008)
    105. Effects of dietary supplements of folic acid and vitamin B12 on metabolism of dairy cows in early lactation. (PubMed id 17582128)9 Graulet B....Girard C.L. (J. Dairy Sci. 2007)
    106. Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes. (PubMed id 17470278)9 Chandler R.J....Venditti C.P. (BMC Med. Genet. 2007)
    107. Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. (PubMed id 16823967)9 Richard E....Albar J.P. (J. Proteome Res. 2006)
    108. Characterization of selected genes upregulated in non-tuberculous European wild boar as possible correlates of resistance to Mycobacterium bovis infection. (PubMed id 16672181)9 Naranjo V....de la Fuente J. (Vet. Microbiol. 2006)
    109. Mutation analysis of the MCM gene in Korean patients with MMA. (PubMed id 15781199)9 Jung J.W....Hwang J.S. (Mol. Genet. Metab. 2005)
    110. Novel mutations in a Thai patient with methylmalonic acidemia. (PubMed id 12948746)9 Champattanachai V....Svasti J. (Mol. Genet. Metab. 2003)
    111. Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant. (PubMed id 12514191)9 Leal N.A.... Bobik T.A. (J. Biol. Chem. 2003)
    112. Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency. (PubMed id 11161845)9 Benoist J.F....Elion J. (Mol. Genet. Metab. 2001)
    113. Initiation of genome replication: assembly and disassembly of replication-competent chromatin. (PubMed id 10713440)9 Ritzi M. and Knippers R. (Gene 2000)
    114. A polymorphic microsatellite located within the second intron of the methylmalonyl-CoA mutase (MUT) gene on SSC 1. (PubMed id 11386222)9 Duscher S....Brenig B. (Anim. Genet. 2000)
    115. Co-ordinate variations in methylmalonyl-CoA mutase and methionine synthase, and the cobalamin cofactors in human glioma cells during nitrous oxide exposure and the subsequent recovery phase. (PubMed id 10377254)9 Riedel B....Ueland P.M. (Biochem. J. 1999)
    116. High-molecular-mass complexes of human minichromosome-maintenance proteins in mitotic cells. (PubMed id 9249019)9 Richter A. and Knippers R. (Eur. J. Biochem. 1997)
    117. Mcm2 and Mcm3 are constitutive nuclear proteins that exhibit distinct isoforms and bind chromatin during specific cell cycle stages of Saccharomyces cerevisiae. (PubMed id 9285827)9 Young M.R. and Tye B.K. (Mol. Biol. Cell 1997)
    118. A novel human Mcm protein: homology to the yeast replication protein Mis5 and chromosomal location. (PubMed id 8921380)9 Holthoff H.P....Knippers R. (Genomics 1996)
    119. How coenzyme B12 radicals are generated: the crystal structure of methylmalonyl-coenzyme A mutase at 2 A resolution. (PubMed id 8805541)9 Mancia F....Evans P.R. (Structure 1996)
    120. Evidence from electron paramagnetic resonance spectroscopy of the participation of radical intermediates in the reaction catalyzed by methylmalonyl-coenzyme A mutase. (PubMed id 7721850)9 Padmakumar R. and Banerjee R. (J. Biol. Chem. 1995)
    121. Interactions of human nuclear proteins P1Mcm3 and P1Cdc46. (PubMed id 7705359)9 Burkhart R....Knippers R. (Eur. J. Biochem. 1995)
    122. Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency. (PubMed id 7681251)9 Shevell M.I....Rosenblatt D.S. (Am. J. Med. Genet. 1993)
    123. Anesthetic management of a child with methylmalonyl-coenzyme A mutase deficiency. (PubMed id 1680300)9 Sharar S.R....Scott C.R. (Anesth. Analg. 1991)
    124. Heterogeneous alleles and expression of methylmalonyl CoA mutase in mut methylmalonic acidemia. (PubMed id 1968706)9 Ledley F.D....Lumetta M. (Am. J. Hum. Genet. 1990)
    125. Methods to study how replication fork helicases unwind DNA. (PubMed id 20225146)9 Kaplan D.L. and Bruck I. (Methods Mol. Biol. 2010)
    126. Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease. (PubMed id 20174775)9 Gailus S....Rutsch F. (J. Mol. Med. 2010)
    127. Functional screen of human MCM2-7 variant alleles for disease-causing potential. (PubMed id 19481678)9 Steere N.A....Shima N. (Mutat. Res. 2009)
    128. Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase. (PubMed id 19625202)9 Zhang J....Gravel R.A. (Mol. Genet. Metab. 2009)
    129. Adenosyltransferase tailors and delivers coenzyme B12. (PubMed id 18264093)9 Padovani D....Banerjee R. (Nat. Chem. Biol. 2008)
    130. Regulation by SREBP-2 defines a potential link between isoprenoid and adenosylcobalamin metabolism. (PubMed id 17300749)9 Murphy C....GAYfvels M. (Biochem. Biophys. Res. Commun. 2007)
    131. Nascent transcription of MCM2-7 is important for nuclear localization of the minichromosome maintenance complex in G1. (PubMed id 17314407)9 Braun K.A. and Breeden L.L. (Mol. Biol. Cell 2007)
    132. In vivo expression of human ATP:cob(I)alamin adenosyltransferase (ATR) using recombinant adeno-associated virus (rAAV) serotypes 2 and 8. (PubMed id 17471589)9 Erger K.E....Flotte T.R. (J Gene Med 2007)
    133. [Diagnosis and treatment of methylmalonic aciduria: a case report]. (PubMed id 17432548)9 Mahfoud A....PAcrez B. (Invest Clin 2007)
    134. Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. (PubMed id 16451139)9 Cavicchi C....Morrone A. (Clin. Genet. 2006)
    135. Nitric oxide scavenging by the cobalamin precursor cobinamide. (PubMed id 15632180)9 Broderick K.E....Boss G.R. (J. Biol. Chem. 2005)
    136. Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. (PubMed id 16150626)9 Morel C.F....Rosenblatt D.S. (Mol. Genet. Metab. 2005)
    137. Prokaryotic and eukaryotic DNA helicases. Essential molecular motor proteins for cellular machinery. (PubMed id 15128294)9 Tuteja N. and Tuteja R. (Eur. J. Biochem. 2004)
    138. Mammalian Mcm2/4/6/7 complex forms a toroidal structure. (PubMed id 12694531)9 Yabuta N....Nojima H. (amp 2003)
    139. [Characterization of Amycolatopsis meditteranei U32 chromosome by pulse-field gel electrophoresis]. (PubMed id 16276900)9 Ma W....Zhao G. (Wei Sheng Wu Xue Bao 2003)
    140. An automatic method to generate force-field parameters for hetero-compounds. (PubMed id 12554938)9 Nilsson K....Ryde U. (Acta Crystallogr. D Biol. Crystallogr. 2003)
    141. The spatio-temporal organization of DNA replication sites is identical in primary, immortalized and transformed mammalian cells. (PubMed id 12356909)9 Dimitrova D.S. and Berezney R. (J. Cell. Sci. 2002)
    142. Assembly of the human origin recognition complex. (PubMed id 11323433)9 Vashee S....Kelly T.J. (J. Biol. Chem. 2001)
    143. Towards metabolic sink therapy for mut methylmalonic acidaemia: correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transfer. (PubMed id 10518277)9 Chang C.C....Lin C.M. (J. Inherit. Metab. Dis. 1999)
    144. Selective proteolysis of the nuclear replication factor MCM3 in apoptosis. (PubMed id 9473350)9 Schwab B.L....Nicotera P. (Exp. Cell Res. 1998)
    145. E2F3 activity is regulated during the cell cycle and is required for the induction of S phase. (PubMed id 9679057)9 Leone G....Nevins J.R. (amp 1998)
    146. Protein kinase inhibition in G2 causes mammalian Mcm proteins to reassociate with chromatin and restores ability to replicate. (PubMed id 9457057)9 Coverley D....Laskey R.A. (Exp. Cell Res. 1998)
    147. Expression, nuclear localization and interactions of human MCM/P1 proteins. (PubMed id 9223437)9 Tsuruga H.... Nojima H. (Biochem. Biophys. Res. Commun. 1997)

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    Entrez Gene: 4594 HGNC: 7526 AceView: MUT Ensembl:ENSG00000146085 euGenes: HUgn4594
    ECgene: MUT Kegg: 4594 H-InvDB: MUT

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    NameDescription
    PharmGKB entry for MUT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MUT[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Methylmalonyl_Coenzyme_A_mutase

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