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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 to protein refNP_000246.1 (H.sapiens) methylmalonyl Coenzyme A mutase precursor [Homo sapiens] less 78.09(n)    AW644910.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.70552 Transcribed sequence with moderate similarity to protein refNP_000246.1 (H.sapiens) methylmalonyl Coenzyme A mutase precursor [Homo sapiens] less 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):
    (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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4594 HGNC: 7526 AceView: MUT Ensembl:ENSG00000146085 euGenes: HUgn4594
    ECgene: MUT Kegg: 4594 H-InvDB: MUT

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MUT gene:
    Search GeneIP for patents involving MUT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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