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Aliases for MMAB Gene

Aliases for MMAB Gene

  • Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type 2 3 5
  • Cilia And Flagella Associated Protein 23 2 3
  • Methylmalonic Aciduria Type B Protein 3 4
  • ATP:Cob(I)Alamin Adenosyltransferase 2 3
  • Methylmalonic Aciduria (Cobalamin Deficiency) Type B 2
  • Aquocob(I)Alamin Vitamin B12s Adenosyltransferase 3
  • ATP:Corrinoid Adenosyltransferase 3
  • Cob(I)Alamin Adenosyltransferase 4
  • EC 4
  • CFAP23 3
  • CblB 3
  • ATR 3
  • Cob 3

External Ids for MMAB Gene

Previous GeneCards Identifiers for MMAB Gene

  • GC12U900014
  • GC12M109886
  • GC12M108455
  • GC12M109991
  • GC12M107009

Summaries for MMAB Gene

Entrez Gene Summary for MMAB Gene

  • This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]

GeneCards Summary for MMAB Gene

MMAB (Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type) is a Protein Coding gene. Diseases associated with MMAB include Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type and Methylmalonic Acidemia. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. GO annotations related to this gene include cob(I)yrinic acid a,c-diamide adenosyltransferase activity.

Gene Wiki entry for MMAB Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMAB Gene

Genomics for MMAB Gene

Regulatory Elements for MMAB Gene

Enhancers for MMAB 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 MMAB on UCSC Golden Path with GeneCards custom track

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

ENSRs around MMAB on UCSC Golden Path with GeneCards custom track

Genomic Location for MMAB Gene

109,553,715 bp from pter
109,573,874 bp from pter
20,160 bases
Minus strand

Genomic View for MMAB Gene

Genes around MMAB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MMAB Gene

Proteins for MMAB Gene

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

    Protein Symbol:
    Recommended name:
    Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • C5HU05
    • Q9BSH0

    Protein attributes for MMAB Gene

    250 amino acids
    Molecular mass:
    27388 Da
    Quaternary structure:
    • Homotrimer.

    Three dimensional structures from OCA and Proteopedia for MMAB Gene

neXtProt entry for MMAB Gene

Proteomics data for MMAB Gene at MOPED

Post-translational modifications for MMAB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MMAB Gene

Domains & Families for MMAB Gene

Protein Domains for MMAB Gene

Suggested Antigen Peptide Sequences for MMAB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Cob(I)alamin adenosyltransferase family.
  • Belongs to the Cob(I)alamin adenosyltransferase family.
genes like me logo Genes that share domains with MMAB: view

No data available for Gene Families for MMAB Gene

Function for MMAB Gene

Molecular function for MMAB Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + cob(I)yrinic acid a,c-diamide = triphosphate + adenosylcob(III)yrinic acid a,c-diamide.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + cobinamide = triphosphate + adenosylcobinamide.

Enzyme Numbers (IUBMB) for MMAB Gene

Phenotypes for MMAB Gene

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

Human Phenotype Ontology for MMAB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MMAB

miRNA for MMAB Gene

miRTarBase miRNAs that target MMAB

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

Localization for MMAB Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMAB Gene


Subcellular locations from

Jensen Localization Image for MMAB Gene COMPARTMENTS Subcellular localization image for MMAB gene
Compartment Confidence
mitochondrion 5
cytosol 1
nucleus 1
peroxisome 1

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

Pathways & Interactions for MMAB Gene

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

UniProtKB/Swiss-Prot Q96EY8-MMAB_HUMAN

  • Pathway: Cofactor biosynthesis; adenosylcobalamin biosynthesis; adenosylcobalamin from cob(II)yrinate a,c-diamide: step 2/7.

Gene Ontology (GO) - Biological Process for MMAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006767 water-soluble vitamin metabolic process TAS --
genes like me logo Genes that share ontologies with MMAB: view

No data available for SIGNOR curated interactions for MMAB Gene

Drugs & Compounds for MMAB Gene

(8) Drugs for MMAB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hydroxocobalamin Approved Pharma Target, other 234
Cyanocobalamin Approved Nutra Enzyme, substrate 234
Adenosine triphosphate Approved Nutra 0
PPPi Experimental Pharma 0
Manganese Pharma 32

(8) Additional Compounds for MMAB Gene - From: HMDB and Novoseek

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
Adenosyl cobinamide
  • 5'-Deoxy-5'-adenosylcobinamide
  • Adenosylcobinamide
Adenosyl cobyrinic acid a,c diamide
  • Adenosyl cobyrinate a,c diamide
  • Adenosylcob(III)yrinic acid a,c-diamide
  • Adenosyl cobyrinate diamide
  • Adenosylcobyrinic acid a,c-diamide
adenosylcob(III)yrinic acid a,c-diamide
  • Cob(I)alamin
  • Cyanocobalamin
  • Hydrido-Cobalamin
  • Hydridocobalamin
  • Vitamin B12s
genes like me logo Genes that share compounds with MMAB: view

Transcripts for MMAB Gene

Unigene Clusters for MMAB Gene

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

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

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - -
SP9: - - - -
SP10: -
SP11: - - - - -
SP12: - - -
SP13: - - - -
SP14: - -
SP15: -

Relevant External Links for MMAB Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MMAB Gene

mRNA expression in normal human tissues for MMAB Gene

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

This gene is overexpressed in Liver (x4.0).

Protein differential expression in normal tissues from HIPED for MMAB Gene

This gene is overexpressed in Liver (8.0) and Fetal testis (6.5).

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

SOURCE GeneReport for Unigene cluster for MMAB Gene Hs.12106

mRNA Expression by UniProt/SwissProt for MMAB Gene

Tissue specificity: Expressed in liver and skeletal muscle.
genes like me logo Genes that share expression patterns with MMAB: view

Protein tissue co-expression partners for MMAB Gene

- Elite partner

Primer Products

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

Orthologs for MMAB Gene

This gene was present in the common ancestor of animals.

Orthologs for MMAB Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MMAB 35
  • 87.95 (n)
  • 88.39 (a)
  • 78 (a)
(Canis familiaris)
Mammalia MMAB 35
  • 88.13 (n)
  • 90.87 (a)
  • 87 (a)
(Mus musculus)
Mammalia Mmab 35
  • 86.15 (n)
  • 87.01 (a)
Mmab 16
Mmab 36
  • 85 (a)
(Pan troglodytes)
Mammalia MMAB 35
  • 98.61 (n)
  • 98.75 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Mmab 35
  • 82.97 (n)
  • 86.58 (a)
(Monodelphis domestica)
Mammalia MMAB 36
  • 66 (a)
(Ornithorhynchus anatinus)
Mammalia MMAB 36
  • 77 (a)
(Gallus gallus)
Aves -- 36
  • 64 (a)
-- 36
  • 64 (a)
(Danio rerio)
Actinopterygii Dr.18617 35
mmab 35
  • 66 (n)
  • 67.5 (a)
mmab 36
  • 58 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4954 35
(Caenorhabditis elegans)
Secernentea mmab-1 36
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
Species with no ortholog for MMAB:
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MMAB Gene

Gene Tree for MMAB (if available)
Gene Tree for MMAB (if available)

Paralogs for MMAB Gene

(5) SIMAP similar genes for MMAB Gene using alignment to 7 proteins:

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

No data available for Paralogs for MMAB Gene

Variants for MMAB Gene

Sequence variations from dbSNP and Humsavar for MMAB Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_017203 -
rs35648932 Methylmalonic aciduria type cblB (MMAB) 109,561,798(+) CCGGG(C/T)CGAGG nc-transcript-variant, reference, missense
rs28941784 - 109,561,068(-) TCTGC(C/T)GGGCC nc-transcript-variant, reference, missense
VAR_017206 Methylmalonic aciduria type cblB (MMAB)
VAR_017207 Methylmalonic aciduria type cblB (MMAB)

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

Variant ID Type Subtype PubMed ID
nsv899514 CNV Loss 21882294
dgv1490n71 CNV Loss 21882294

Variation tolerance for MMAB Gene

Residual Variation Intolerance Score: 72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.62; 86.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MMAB Gene

Human Gene Mutation Database (HGMD)

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

Disorders for MMAB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type
  • methylmalonic aciduria type cblb
methylmalonic acidemia
  • methylmalonic acidemia, cbla type
mmab-related methylmalonic acidemia
  • mmab-related methylmalonic aciduria
isolated methylmalonic acidemia
  • methylmalonic acidemia
organic acidemia
  • organic acid metabolism disorder
- elite association - COSMIC cancer census association via MalaCards
Search MMAB in MalaCards View complete list of genes associated with diseases


  • Methylmalonic aciduria type cblB (MMAB) [MIM:251110]: A disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. {ECO:0000269 PubMed:12471062, ECO:0000269 PubMed:15781192}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MMAB

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MMAB: view

No data available for Genatlas for MMAB Gene

Publications for MMAB Gene

  1. Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant. (PMID: 12514191) Leal N.A. … Bobik T.A. (J. Biol. Chem. 2003) 2 3 4 23 67
  2. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. (PMID: 16410054) Lerner-Ellis J.P. … Rosenblatt D.S. (Mol. Genet. Metab. 2006) 23 25 26
  3. Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism. (PMID: 16439175) Zhang J. … Gravel R.A. (Mol. Genet. Metab. 2006) 23 25 26
  4. Identification of the gene responsible for the cblB complementation group of vitamin B(12)-dependent methylmalonic aciduria. (PMID: 12471062) Dobson C.M. … Gravel R.A. (Hum. Mol. Genet. 2002) 2 3 23
  5. Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK. (PMID: 20159775) Fogarty M.P. … Mohlke K.L. (Hum. Mol. Genet. 2010) 3 23

Products for MMAB Gene

Sources for MMAB Gene