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MMACHC Gene

protein-coding   GIFtS: 57
GCID: GC01P045965

Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type,...

  See 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
Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With
Homocystinuria1 2
cblC2
Methylmalonic Aciduria And Homocystinuria Type C Protein2

External Ids:    HGNC: 245251   Entrez Gene: 259742   Ensembl: ENSG000001327637   OMIM: 6098315   UniProtKB: Q9Y4U13   

Export aliases for MMACHC gene to outside databases

Previous GC identifers: GC01P045636 GC01P045733 GC01P044077


(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 MMACHC Gene:
The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows
similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake.
Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of
cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC.
(provided by RefSeq, Oct 2009)

GeneCards Summary for MMACHC Gene:
MMACHC (methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria) is a protein-coding gene. Diseases associated with MMACHC include cblc, and methylmalonic aciduria and homocystinuria type cblc. GO annotations related to this gene include cobalamin binding.

UniProtKB/Swiss-Prot: MMAC_HUMAN, Q9Y4U1
Function: May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12)

Gene Wiki entry for MMACHC 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:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MMACHC gene promoter:
         SRF   C/EBPbeta   SRF (504 AA)   E47   MZF-1   ARP-1   ZID   Msx-1   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMMACHC promoter sequence
   Search Chromatin IP Primers for MMACHC

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


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

Entrez Gene cytogenetic band: 1p34.1   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p34.1

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P045965:  view genomic region     (about GC identifiers)

Start:
45,965,725 bp from pter      End:
45,976,739 bp from pter
Size:
11,015 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MMAC_HUMAN, Q9Y4U1 (See protein sequence)
Recommended Name: Methylmalonic aciduria and homocystinuria type C protein  
Size: 282 amino acids; 31728 Da
Sequence caution: Sequence=AAH06122.3; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for MMACHC:
3SBY (3D)        3SBZ (3D)        3SC0 (3D)        3SOM (3D)    
Secondary accessions: Q5T157 Q9BRQ7

Explore the universe of human proteins at neXtProt for MMACHC: NX_Q9Y4U1

Explore proteomics data for MMACHC at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MMACHC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056321.2  
    ENSEMBL proteins: 
     ENSP00000383840  
    Reactome Protein details: Q9Y4U1

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q9Y4U1

    UniProtKB/Swiss-Prot: MMAC_HUMAN, Q9Y4U1
    Similarity: Belongs to the MMACHC family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MMAC_HUMAN, Q9Y4U1
    Function: May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031419cobalamin binding IEA--
         
    MMACHC for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MMACHC
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    miRNA
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    miRTarBase miRNAs that target MMACHC:
    hsa-mir-98-5p (MIRT027474), hsa-let-7b-5p (MIRT051928), hsa-mir-342-5p (MIRT038225)

    Block miRNA regulation of human, mouse, rat MMACHC using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate MMACHC:
    hsa-miR-890 hsa-miR-769-5p hsa-miR-3658 hsa-miR-558 hsa-miR-624*
    SwitchGear 3'UTR luciferase reporter plasmidMMACHC 3' UTR sequence
    Inhib. RNA
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    golgi apparatus2
    mitochondrion2
    nucleus2
    plasma membrane2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--

    MMACHC for ontologies           About GeneDecksing


    (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 MMACHC About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Defective 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
    2Metabolism
    Metabolism0.38
    3Vitamin digestion and absorption
    Vitamin digestion and absorption
    4Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Reactome Pathways for MMACHC
        Cobalamin (Cbl, vitamin B12) transport and metabolism
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
    Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD


    1 Kegg Pathway  (Kegg details for MMACHC):
        Vitamin digestion and absorption

    UniProtKB/Swiss-Prot: MMAC_HUMAN, Q9Y4U1
    Pathway: Cofactor biosynthesis; adenosylcobalamin biosynthesis


    MMACHC for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MMACHC
    Interactions:

        Search GeneGlobe Interaction Network for MMACHC

    1 Interacting protein for MMACHC (Q9Y4U13) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    STK3Q131883I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0009235cobalamin metabolic process TAS--
    GO:0009236cobalamin biosynthetic process IEA--
    GO:0044281small molecule metabolic process TAS--

    MMACHC for ontologies           About GeneDecksing



    (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 MMACHC (MMAC)

    3 HMDB Compounds for MMACHC    About this table
    CompoundSynonyms CAS #PubMed Ids
    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--

    2 DrugBank Compounds for MMACHC    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CyanocobalaminCyanocob(III)alamin (see all 3)68-19-9targetcofactor17431913 16714133 16843692 16311595
    HydroxocobalaminHydroxomin (see all 2)13422-51-0targetother/unknown17139284 17016423 16311595

    2 Novoseek inferred chemical compound relationships for MMACHC gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cobalamin 83 6 19200761 (1), 18245139 (1), 19199254 (1), 19700356 (1) (see all 5)
    vitamin b12 53.5 9 19700356 (7), 19200761 (1), 19447654 (1), 19370762 (1)



    MMACHC for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MMACHC gene: 
    NM_015506.2  

    Unigene Cluster for MMACHC:

    Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
    Hs.13024  [show with all ESTs]
    Unigene Representative Sequence: NM_015506
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000401061(uc009vxv.3) ENST00000477188
    miRNA
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    hsa-miR-890 hsa-miR-769-5p hsa-miR-3658 hsa-miR-558 hsa-miR-624*
    SwitchGear 3'UTR luciferase reporter plasmidMMACHC 3' UTR sequence
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    Additional mRNA sequence: AK098537.1 

    5 DOTS entries:

    DT.100748621  DT.412704  DT.100748619  DT.95364791  DT.121402044 

    Selected AceView cDNA sequences (see all 94):

    AW580402 BM662145 AA758260 BM702997 CD358853 BU839693 BX280986 BX280879 
    BU729469 BM980565 AA721996 BC006122 BF988085 AI738885 AI138764 CA427378 
    BG615910 AL080062 AI081547 AK098537 W07636 AI343507 BE048794 CB162770 

    GeneLoc Exon Structure


    (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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    MMACHC expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCACTCT
    MMACHC Expression
    About this image

    MMACHC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MMACHC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.13024

    UniProtKB/Swiss-Prot: MMAC_HUMAN, Q9Y4U1
    Tissue specificity: Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph
    node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes

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    (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 MMACHC gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mmachc1 , 5 methylmalonic aciduria cblC type, with homocystinuria1, 5 82.56(n)1
    83.15(a)1
      4 (53.29 cM)5
    670961  NM_025962.31  NP_080238.21 
     1167022795 
    chicken
    (Gallus gallus)
    Aves MMACHC1 methylmalonic aciduria (cobalamin deficiency) cblC more 63.55(n)
    61.28(a)
      424597  NM_001031281.1  NP_001026452.1 
    lizard
    (Anolis carolinensis)
    Reptilia MMACHC6
    methylmalonic aciduria (cobalamin deficiency) cblC...
    56(a)
    1 ↔ 1
    4(110405918-110420890)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.146562 Transcribed sequence with weak similarity to protein more 75.07(n)    142029689 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc29d042 Transcribed sequence with weak similarity to protein more 75.35(n)    BI979299.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cblc-11 cblc-1 48.67(n)
    39.91(a)
      3565644  NM_001027353.4  NP_001022524.1 


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

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

    MMACHC for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MMACHC
    PGOHUM00000237865


    (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 MMACHC (see all 374)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1405222661,2,,4
    CMethylmalonic aciduria and homocystinuria type cblC (MMAHCC)4 --46052337(+) ATCAGG/CTGTGT 2 /A /G mis11Minor allele frequency- C:0.00EU 1243
    VAR_0247834
    Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)4--see VAR_0247832 R W mis40--------
    VAR_0247724
    Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)4--see VAR_0247722 H R mis40--------
    VAR_0247784
    Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)4--see VAR_0247782 R G mis40--------
    VAR_0247774
    Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)4--see VAR_0247772 W C mis40--------
    VAR_0247764
    Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)4--see VAR_0247762 G D mis40--------
    VAR_0247734
    Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)4--see VAR_0247732 Y H mis40--------
    VAR_0247714
    Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)4--see VAR_0247712 L P mis40--------
    VAR_0247824
    Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)4--see VAR_0247822 R P mis40--------
    VAR_0247704
    Methylmalonic aciduria and homocystinuria type cblC (MMAHCC)4--see VAR_0247702 Q R mis40--------

    HapMap Linkage Disequilibrium report for MMACHC (45965725 - 45976739 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MMACHC:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829726CNV Loss17160897

    Human Gene Mutation Database (HGMD): MMACHC
    Locus Specific Mutation Databases (LSDB): MMACHC

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609831   
    OMIM disorders: 277400  
    UniProtKB/Swiss-Prot: MMAC_HUMAN, Q9Y4U1
  • Methylmalonic aciduria and homocystinuria type cblC (MMAHCC) [MIM:277400]: A disorder of cobalamin
    metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin
    (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and
    dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop
    symptoms in adulthood. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for MMACHC:    
    About MalaCards
    cblc    methylmalonic aciduria and homocystinuria type cblc    homocystinuria    organic acidemia
    the organic acidemias: an    disorders of intracellular cobalamin metabolism    homocysteinemia    methylmalonic acidemia
    megaloblastic anemia    hepatitis b    hepatitis    multiple myeloma
    myeloma

    3 diseases from the University of Copenhagen DISEASES database for MMACHC:
    Methylmalonic acidemia     Homocystinuria     Megaloblastic anemia

    MMACHC for disorders           About GeneDecksing

    GeneTests: MMACHC
    GeneReviews: MMACHC
    Genetic Association Database (GAD): MMACHC
    Human Genome Epidemiology (HuGE) Navigator: MMACHC (5 documents)

    Export disorders for MMACHC 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 MMACHC gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with MMACHC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (PubMed id 16311595)1, 2, 3, 7, 9 Lerner-Ellis J.P.... Rosenblatt D.S. (Nat. Genet. 2006)
    2. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. (PubMed id 19370762)1, 4, 9 Lerner-Ellis J.P....Fowler B. (Hum. Mutat. 2009)
    3. Late-onset cobalamin-C disorder: a challenging diagnosis. (PubMed id 17431913)1, 7, 9 Ben-Omran T.I....Feigenbaum A. (Am. J. Med. Genet. A 2007)
    4. 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)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. 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)
    7. Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence. (PubMed id 19200761)1, 9 Loewy A.D....Rosenblatt D.S. (Mol. Genet. Metab. 2009)
    8. Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. (PubMed id 19700356)1, 9 Froese D.S....Gravel R.A. (Mol. Genet. Metab. 2009)
    9. [Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria]. (PubMed id 19199254)1, 9 Tang H....Zhou T.H. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009)
    10. [Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. (PubMed id 19573432)4, 9 Wang F....Gu X.F. (Zhonghua Er Ke Za Zhi 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
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      (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: 25974 HGNC: 24525 AceView: DKFZP564I122 Ensembl:ENSG00000132763 euGenes: HUgn25974
    ECgene: MMACHC Kegg: 25974 H-InvDB: MMACHC

    (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 MMACHC Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MMACHC[genesymbol]

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

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



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