MMAB

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MMAB
Protein MMAB PDB 2idx.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMMAB, ATR, CFAP23, cblB, cob, methylmalonic aciduria (cobalamin deficiency) cblB type, metabolism of cobalamin associated B
External IDsMGI: 1924947 HomoloGene: 12680 GeneCards: MMAB
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for MMAB
Genomic location for MMAB
Band12q24.11Start109,553,715 bp[1]
End109,573,580 bp[1]
RNA expression pattern
PBB GE MMAB gnf1h01170 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_052845

NM_029956
NM_001347398

RefSeq (protein)

NP_443077

NP_001334327
NP_084232

Location (UCSC)Chr 12: 109.55 – 109.57 MbChr 5: 114.43 – 114.44 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial is an enzyme that in humans is encoded by the MMAB gene.[5][6][7]

Function[edit]

This gene encodes an enzyme (cob(I)yrinic acid a,c-diamide adenosyltransferase) that catalyzes the final step in the conversion of vitamin B12 into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase.[7]

Clinical significance[edit]

Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139428 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029575 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA (Dec 2002). "Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria". Hum Mol Genet. 11 (26): 3361–9. doi:10.1093/hmg/11.26.3361. PMID 12471062.
  6. ^ Leal NA, Park SD, Kima PE, Bobik TA (Mar 2003). "Identification of the human and bovine ATP:Cob(I)alamin adenosyltransferase cDNAs based on complementation of a bacterial mutant". J Biol Chem. 278 (11): 9227–34. doi:10.1074/jbc.M212739200. PMID 12514191.
  7. ^ a b c "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type".

External links[edit]

Further reading[edit]