MMAB

For other uses, see MMAB (disambiguation).
MMAB
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases MMAB, ATR, CFAP23, cblB, cob, methylmalonic aciduria (cobalamin deficiency) cblB type
External IDs MGI: 1924947 HomoloGene: 12680 GeneCards: MMAB
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

326625

77697

Ensembl

ENSG00000139428

ENSMUSG00000029575

UniProt

Q96EY8

Q9D273

RefSeq (mRNA)

NM_052845

NM_029956

RefSeq (protein)

NP_443077.1

NP_084232.1

Location (UCSC) Chr 12: 109.55 – 109.57 Mb Chr 5: 114.43 – 114.44 Mb
PubMed search [1] [2]
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.[3][4][5]

Function

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.[5]

Clinical significance

Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group.[5]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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.
  5. 1 2 3 "Entrez Gene: MMAB methylmalonic aciduria (cobalamin deficiency) cblB type".

Further reading


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