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Aliases for MMAB Gene

Aliases for MMAB Gene

  • Methylmalonic Aciduria (Cobalamin Deficiency) CblB Type 2 3
  • Cilia And Flagella Associated Protein 23 2 3
  • Methylmalonic Aciduria Type B Protein 3 4
  • ATP:Cob(I)Alamin Adenosyltransferase 2 3
  • Cob(I)Yrinic Acid A,C-Diamide Adenosyltransferase, Mitochondrial 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
  • COB 3
  • ATR 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 Disease and ERK Signaling. GO annotations related to this gene include cob(I)yrinic acid a,c-diamide adenosyltransferase activity and cob(II)alamin reductase 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

Epigenetics Products

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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Other Protein References for MMAB Gene

Antibody Products

No data available for DME Specific Peptides for MMAB Gene

Domains 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

Gene Ontology (GO) - Molecular Function for MMAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0008817 cob(I)yrinic acid a,c-diamide adenosyltransferase activity TAS --
genes like me logo Genes that share ontologies with MMAB: view

Animal Model Products

miRNA for MMAB Gene

Inhibitory RNA Products

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

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , 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 4
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MMAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with MMAB: view

Pathways for MMAB Gene

SuperPathways for MMAB Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Chks in Checkpoint Regulation
3 G2/M Checkpoints
4 Cell Cycle / Checkpoint Control
5 Metabolism
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: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 MMAB: view

Drugs for MMAB Gene

(2) Drugbank Compounds for MMAB Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • Cyanocob(III)alamin
68-19-9 44176380 Enzyme substrate approved, nutraceutical
  • Hydroxocobalamin
13422-51-0 Target other approved

(13) HMDB Compounds for MMAB Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(Tetrahydrogen triphosphate) Adenosine
Adenosyl cobinamide
  • 5'-Deoxy-5'-adenosylcobinamide
Adenosyl cobyrinic acid a,c diamide
  • Adenosyl cobyrinate a,c diamide
adenosylcob(III)yrinic acid a,c-diamide
  • (5'-Deoxy-5'-adenosyl)cobamide coenzyme

(4) Novoseek inferred chemical compound relationships for MMAB Gene

Compound -log(P) Hits PubMed IDs
adenosylcobalamin 95.7 10
cobalamin 89.6 10
vitamin b12 73.4 3
atp 40.1 4
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:

Inhibitory RNA Products

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

Flow Cytometry Products

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 (4.0).

Protein differential expression in normal tissues for MMAB Gene

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

Integrated Proteomics: protein expression 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 expressions with MMAB: view

Expression partners for MMAB Gene

* - Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay 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 MAF
rs369296618 -- 109,557,081(+) CTCTT(A/G)ATTCC reference, stop-gained, nc-transcript-variant
rs369454158 -- 109,566,862(+) TGATG(C/T)GAGAA intron-variant
rs369296142 -- 109,557,115(+) GCTAG(C/T)GTGAA synonymous-codon, reference, nc-transcript-variant
rs368584846 -- 109,561,085(+) GCGCC(A/G)AGCTG reference, missense, nc-transcript-variant
rs368487160 -- 109,556,989(+) CCATC(A/G)CCATG utr-variant-3-prime, nc-transcript-variant

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

Relevant External Links for MMAB 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 MMAB Gene

Disorders for MMAB Gene

(1) OMIM Diseases for MMAB Gene (607568)


  • 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.

(1) University of Copenhagen DISEASES for MMAB Gene

(2) Novoseek inferred disease relationships for MMAB Gene

Disease -log(P) Hits PubMed IDs
methylmalonic aciduria 96 8
metabolic disorder 34.9 1

Relevant External Links for MMAB

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
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 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 4 23
  2. 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
  3. Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. (PMID: 15781192) Martinez M.A. … Perez B. (Mol. Genet. Metab. 2005) 3 4 23
  4. 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
  5. 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

Products for MMAB Gene

Sources for MMAB Gene

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