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Aliases for MMAA Gene

Aliases for MMAA Gene

  • Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type 2 3 5
  • Methylmalonic Aciduria (Cobalamin Deficiency) Type A 2
  • Mutant Adenosylcobalamin 3
  • EC 3.6.-.- 4
  • CblA 3

External Ids for MMAA Gene

Previous GeneCards Identifiers for MMAA Gene

  • GC04P146932
  • GC04P147026
  • GC04P147137
  • GC04P147118
  • GC04P146898
  • GC04P146759
  • GC04P146540
  • GC04P142270

Summaries for MMAA Gene

Entrez Gene Summary for MMAA Gene

  • The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

GeneCards Summary for MMAA Gene

MMAA (Methylmalonic Aciduria (Cobalamin Deficiency) CblA Type) is a Protein Coding gene. Diseases associated with MMAA include Methylmalonic Aciduria, Vitamin B12-Responsive and Methylmalonic Acidemia. Among its related pathways are Diseases of metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include GTP binding and hydrolase activity.

UniProtKB/Swiss-Prot for MMAA Gene

  • Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis.

Gene Wiki entry for MMAA Gene

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

Genomics for MMAA Gene

Regulatory Elements for MMAA Gene

Enhancers for MMAA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MMAA on UCSC Golden Path with GeneCards custom track

Promoters for MMAA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MMAA on UCSC Golden Path with GeneCards custom track

Genomic Location for MMAA Gene

145,618,263 bp from pter
145,660,035 bp from pter
41,773 bases
Plus strand

Genomic View for MMAA Gene

Genes around MMAA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMAA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMAA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMAA Gene

Proteins for MMAA Gene

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

    Protein Symbol:
    Recommended name:
    Methylmalonic aciduria type A protein, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B3KX40
    • Q495G7

    Protein attributes for MMAA Gene

    418 amino acids
    Molecular mass:
    46538 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MMAA Gene

neXtProt entry for MMAA Gene

Proteomics data for MMAA Gene at MOPED

Post-translational modifications for MMAA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MMAA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MMAA Gene

Domains & Families for MMAA Gene

Protein Domains for MMAA Gene

Suggested Antigen Peptide Sequences for MMAA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the SIMIBI class G3E GTPase family. ArgK/MeaB subfamily.
  • Belongs to the SIMIBI class G3E GTPase family. ArgK/MeaB subfamily.
genes like me logo Genes that share domains with MMAA: view

No data available for Gene Families for MMAA Gene

Function for MMAA Gene

Molecular function for MMAA Gene

UniProtKB/Swiss-Prot Function:
Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis.

Enzyme Numbers (IUBMB) for MMAA Gene

genes like me logo Genes that share phenotypes with MMAA: view

Human Phenotype Ontology for MMAA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MMAA Gene

Localization for MMAA Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMAA Gene


Subcellular locations from

Jensen Localization Image for MMAA Gene COMPARTMENTS Subcellular localization image for MMAA gene
Compartment Confidence
mitochondrion 5
cytosol 3
nucleus 2
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for MMAA Gene

Pathways & Interactions for MMAA Gene

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

UniProtKB/Swiss-Prot Q8IVH4-MMAA_HUMAN

  • Pathway: Cofactor biosynthesis; adenosylcobalamin biosynthesis.

Interacting Proteins for MMAA Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
Selected Interacting proteins: ENSP00000281317 Q8IVH4-MMAA_HUMAN for MMAA Gene via STRING I2D

Gene Ontology (GO) - Biological Process for MMAA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation TAS --
GO:0006767 water-soluble vitamin 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 MMAA: view

No data available for SIGNOR curated interactions for MMAA Gene

Drugs & Compounds for MMAA Gene

(4) Drugs for MMAA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, other/unknown 234
Cyanocobalamin Approved Nutra Target, cofactor 234
Cobalamin Nutra 234

(1) Additional Compounds for MMAA Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (5'-Deoxy-5'-adenosyl)cobamide coenzyme
  • 5'-Deoxy-5'-adenosyl vitamin B12
  • 5'-Deoxy-5'-adenosylcobalamin
  • Adenosylcobalamin 5'-phosphate
  • Calomide
genes like me logo Genes that share compounds with MMAA: view

Transcripts for MMAA Gene

Unigene Clusters for MMAA Gene

Methylmalonic aciduria (cobalamin deficiency) cblA type:
Representative Sequences:

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

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
SP2: -

Relevant External Links for MMAA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MMAA Gene

mRNA expression in normal human tissues for MMAA Gene

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

This gene is overexpressed in Liver (x4.6).

Protein differential expression in normal tissues from HIPED for MMAA Gene

This gene is overexpressed in Heart (25.2) and Gallbladder (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MMAA Gene

SOURCE GeneReport for Unigene cluster for MMAA Gene Hs.452864

mRNA Expression by UniProt/SwissProt for MMAA Gene

Tissue specificity: Widely expressed. Highest expression is observed in liver and skeletal muscle.
genes like me logo Genes that share expression patterns with MMAA: view

Protein tissue co-expression partners for MMAA Gene

- Elite partner

Primer Products

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

Orthologs for MMAA Gene

This gene was present in the common ancestor of animals.

Orthologs for MMAA Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MMAA 35
  • 89.61 (n)
  • 88.25 (a)
  • 87 (a)
(Canis familiaris)
Mammalia MMAA 35
  • 91.99 (n)
  • 91.35 (a)
  • 90 (a)
(Mus musculus)
Mammalia Mmaa 35
  • 82.23 (n)
  • 81.91 (a)
Mmaa 16
Mmaa 36
  • 79 (a)
(Pan troglodytes)
Mammalia MMAA 35
  • 99.76 (n)
  • 99.76 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Mmaa 35
  • 80.96 (n)
  • 80.88 (a)
(Monodelphis domestica)
Mammalia MMAA 36
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia MMAA 36
  • 83 (a)
(Gallus gallus)
Aves MMAA 35
  • 74.75 (n)
  • 76.98 (a)
  • 75 (a)
(Anolis carolinensis)
Reptilia MMAA 36
  • 73 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mmaa 35
  • 72.6 (n)
  • 75.99 (a)
Str.18824 35
(Danio rerio)
Actinopterygii Dr.9506 35
mmaa 35
  • 63.36 (n)
  • 67.68 (a)
mmaa 36
  • 65 (a)
(Caenorhabditis elegans)
Secernentea mmaa-1 35
  • 54.71 (n)
  • 53.19 (a)
mmaa-1 36
  • 45 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.722 35
Species with no ortholog for MMAA:
  • 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 MMAA Gene

Gene Tree for MMAA (if available)
Gene Tree for MMAA (if available)

Paralogs for MMAA Gene

No data available for Paralogs for MMAA Gene

Variants for MMAA Gene

Sequence variations from dbSNP and Humsavar for MMAA Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_017202 Methylmalonic aciduria type cblA (MMAA)
rs2270655 - 145,655,266(+) CAACA(C/G)AAAGT reference, missense
VAR_020835 Methylmalonic aciduria type cblA (MMAA)
rs200577967 Methylmalonic aciduria type cblA (MMAA) 145,639,573(+) ATTTC(A/G)AGTAG upstream-variant-2KB, reference, missense
VAR_020837 Methylmalonic aciduria type cblA (MMAA)

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

Variant ID Type Subtype PubMed ID
nsv880237 CNV Gain 21882294
nsv830105 CNV Loss 17160897

Variation tolerance for MMAA Gene

Residual Variation Intolerance Score: 14.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.80; 66.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MMAA Gene

Human Gene Mutation Database (HGMD)

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

Disorders for MMAA Gene

MalaCards: The human disease database

(8) MalaCards diseases for MMAA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
methylmalonic aciduria, vitamin b12-responsive
  • methylmalonic aciduria type cbla
methylmalonic acidemia
  • methylmalonic acidemia, cbla type
mmaa-related methylmalonic acidemia
  • mmaa-related methylmalonic aciduria
vitamin b12-responsive methylmalonic acidemia
  • adenosylcobalamin deficiency
spondylocostal dysostosis
  • jarcho-levin syndrome
- elite association - COSMIC cancer census association via MalaCards
Search MMAA in MalaCards View complete list of genes associated with diseases


  • Methylmalonic aciduria type cblA (MMAA) [MIM:251100]: A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. {ECO:0000269 PubMed:12438653, ECO:0000269 PubMed:15308131, ECO:0000269 PubMed:15523652, ECO:0000269 PubMed:23026888}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MMAA

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MMAA: view

No data available for Genatlas for MMAA Gene

Publications for MMAA Gene

  1. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. (PMID: 12438653) Dobson C.M. … Gravel R.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4 23 67
  2. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B(12) metabolism. (PMID: 15523652) Lerner-Ellis J.P. … Rosenblatt D.S. (Hum. Mutat. 2004) 3 23 25 26
  3. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. (PMID: 16697227) Dobson C.M. … Gravel R.A. (Mol. Genet. Metab. 2006) 23 25 26
  4. Methylmalonic Acidemia (PMID: 20301409) Pagon R.A. … Stephens K. ( 1993) 3 25 26
  5. Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group. (PMID: 17957493) Merinero B. … Ugarte M. (J. Inherit. Metab. Dis. 2008) 3 23

Products for MMAA Gene

Sources for MMAA Gene