Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MMACHC Gene

Aliases for MMACHC Gene

  • Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria 2 3
  • Methylmalonic Aciduria And Homocystinuria Type C Protein 3
  • CblC 3

External Ids for MMACHC Gene

Previous GeneCards Identifiers for MMACHC Gene

  • GC01P045636
  • GC01P045733
  • GC01P045965
  • GC01P044077

Summaries for MMACHC Gene

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 methylmalonic aciduria and homocystinuria, cblc type and methylmalonic acidemia with homocystinuria. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include cobalamin binding.

UniProtKB/Swiss-Prot for MMACHC Gene

  • May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12)

Gene Wiki entry for MMACHC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMACHC Gene

Genomics for MMACHC Gene

Regulatory Elements for MMACHC Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MMACHC Gene

45,500,053 bp from pter
45,513,382 bp from pter
13,330 bases
Plus strand

Genomic View for MMACHC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MMACHC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMACHC Gene

Proteins for MMACHC Gene

  • Protein details for MMACHC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Methylmalonic aciduria and homocystinuria type C protein
    Protein Accession:
    Secondary Accessions:
    • Q5T157
    • Q9BRQ7

    Protein attributes for MMACHC Gene

    282 amino acids
    Molecular mass:
    31728 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAH06122.3; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MMACHC Gene

neXtProt entry for MMACHC Gene

Proteomics data for MMACHC Gene at MOPED

Post-translational modifications for MMACHC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MMACHC Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MMACHC Gene

Domains for MMACHC Gene

Protein Domains for MMACHC Gene


Suggested Antigen Peptide Sequences for MMACHC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q9Y4U1
  • Belongs to the MMACHC family.
genes like me logo Genes that share domains with MMACHC: view

No data available for Gene Families for MMACHC Gene

Function for MMACHC Gene

Molecular function for MMACHC Gene

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

Gene Ontology (GO) - Molecular Function for MMACHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23825108
GO:0031419 cobalamin binding IEA --
genes like me logo Genes that share ontologies with MMACHC: view

Animal Model Products

CRISPR Products

miRNA for MMACHC Gene

miRTarBase miRNAs that target MMACHC

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for MMACHC Gene

Localization for MMACHC Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMACHC Gene


Subcellular locations from

Jensen Localization Image for MMACHC Gene COMPARTMENTS Subcellular localization image for MMACHC gene
Compartment Confidence
cytosol 2
golgi apparatus 2
mitochondrion 2
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for MMACHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MMACHC: view

Pathways for MMACHC Gene

SuperPathways for MMACHC Gene

genes like me logo Genes that share pathways with MMACHC: view

UniProtKB/Swiss-Prot Q9Y4U1-MMAC_HUMAN

  • Pathway: Cofactor biosynthesis; adenosylcobalamin biosynthesis

Interacting Proteins for MMACHC Gene

Gene Ontology (GO) - Biological Process for MMACHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0009235 cobalamin metabolic process TAS --
GO:0009236 cobalamin biosynthetic process IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with MMACHC: view

Compounds for MMACHC Gene

(3) HMDB Compounds for MMACHC Gene

Compound Synonyms Cas Number PubMed IDs
  • 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole
  • Co
  • Dimethylbenzimidazoylcobamide

(2) Drugbank Compounds for MMACHC Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
  • Cyanocob(III)alamin
68-19-9 target cofactor
  • Hydroxomin
13422-51-0 target other/unknown

(2) Novoseek inferred chemical compound relationships for MMACHC Gene

Compound -log(P) Hits PubMed IDs
cobalamin 83 5
vitamin b12 53.5 10
genes like me logo Genes that share compounds with MMACHC: view

Transcripts for MMACHC Gene


Unigene Clusters for MMACHC Gene

Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MMACHC

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MMACHC

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MMACHC Gene

No ASD Table

Relevant External Links for MMACHC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MMACHC Gene

mRNA expression in normal human tissues for MMACHC Gene

mRNA differential expression in normal tissues according to GTEx for MMACHC Gene

This gene is overexpressed in Liver (4.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MMACHC Gene

SOURCE GeneReport for Unigene cluster for MMACHC Gene Hs.13024

mRNA Expression by UniProt/SwissProt for MMACHC Gene

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.
genes like me logo Genes that share expressions with MMACHC: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MMACHC Gene

Orthologs for MMACHC Gene

This gene was present in the common ancestor of animals.

Orthologs for MMACHC Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MMACHC 35
  • 99.41 (n)
  • 99.65 (a)
  • 100 (a)
(Bos Taurus)
Mammalia MMACHC 35
  • 88.45 (n)
  • 88.21 (a)
  • 88 (a)
(Canis familiaris)
Mammalia -- 36
  • 88 (a)
-- 36
  • 85 (a)
  • 86.36 (n)
  • 88.26 (a)
(Mus musculus)
Mammalia Mmachc 35
  • 82.56 (n)
  • 83.15 (a)
Mmachc 16
Mmachc 36
  • 85 (a)
(Monodelphis domestica)
Mammalia MMACHC 36
  • 71 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 72 (a)
-- 36
  • 72 (a)
(Rattus norvegicus)
Mammalia Mmachc 35
  • 83.69 (n)
  • 84.53 (a)
(Gallus gallus)
Aves MMACHC 35
  • 63.55 (n)
  • 61.28 (a)
  • 61 (a)
(Anolis carolinensis)
Reptilia MMACHC 36
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mmachc 35
  • 58.85 (n)
  • 58.66 (a)
Str.14656 35
(Danio rerio)
Actinopterygii mmachc 35
  • 58.87 (n)
  • 51.08 (a)
mmachc 36
  • 43 (a)
wufc29d04 35
(Caenorhabditis elegans)
Secernentea cblc-1 35
  • 48.67 (n)
  • 39.91 (a)
cblc-1 36
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
Species with no ortholog for MMACHC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MMACHC Gene

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

Paralogs for MMACHC Gene Pseudogenes for MMACHC Gene

genes like me logo Genes that share paralogs with MMACHC: view

No data available for Paralogs for MMACHC Gene

Variants for MMACHC Gene

Sequence variations from dbSNP and Humsavar for MMACHC Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs882803 -- 45,510,475(+) GGACC(A/G)CCTGA utr-variant-3-prime
rs2275276 Benign 45,508,256(+) GAGGT(A/G)CACCC synonymous-codon, reference
rs3215980 -- 45,507,763(+) TGAAA(-/T)TAGTC intron-variant
rs4660865 -- 45,509,869(+) gaggt(C/G)gagtt utr-variant-3-prime, downstream-variant-500B
rs6658660 -- 45,506,301(+) ATGTT(C/G)ATTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MMACHC Gene

Variant ID Type Subtype PubMed ID
nsv829726 CNV Loss 17160897

Relevant External Links for MMACHC Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMACHC Gene

Disorders for MMACHC Gene

(1) OMIM Diseases for MMACHC Gene (609831)


  • 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. {ECO:0000269 PubMed:16311595}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for MMACHC Gene

Relevant External Links for MMACHC

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with MMACHC: view

Publications for MMACHC Gene

  1. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. (PMID: 16311595) Lerner-Ellis J.P. … Rosenblatt D.S. (Nat. Genet. 2006) 2 3 4 23 25
  2. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. (PMID: 19370762) Lerner-Ellis J.P. … Fowler B. (Hum. Mutat. 2009) 3 23 48
  3. Late-onset cobalamin-C disorder: a challenging diagnosis. (PMID: 17431913) Ben-Omran T.I. … Feigenbaum A. (Am. J. Med. Genet. A 2007) 3 23 25
  4. Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product. (PMID: 19447654) Hannibal L. … Jacobsen D.W. (Mol. Genet. Metab. 2009) 3 23
  5. [Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. (PMID: 19573432) Wang F. … Gu X.F. (Zhonghua Er Ke Za Zhi 2009) 23 48

Products for MMACHC Gene

Sources for MMACHC Gene

Back to Top