MMAA

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For other uses, see MMAA (disambiguation).
Methylmalonic aciduria (cobalamin deficiency) cblA type
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols MMAA ; cblA
External IDs OMIM607481 MGI1923805 HomoloGene14586 GeneCards: MMAA Gene
Orthologs
Species Human Mouse
Entrez 166785 109136
Ensembl ENSG00000151611 ENSMUSG00000037022
UniProt Q8IVH4 Q8C7H1
RefSeq (mRNA) NM_172250 NM_133823
RefSeq (protein) NP_758454 NP_598584
Location (UCSC) Chr 4:
146.54 – 146.58 Mb
Chr 8:
79.27 – 79.29 Mb
PubMed search [1] [2]

Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.[1]

Function[edit]

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.[2]

Clinical significance[edit]

Mutations in the MMAA gene are associated with methylmalonic acidemia.[1][3]

References[edit]

  1. ^ a b Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA (November 2002). "Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements". Proc. Natl. Acad. Sci. U.S.A. 99 (24): 15554–9. doi:10.1073/pnas.242614799. PMC 137755. PMID 12438653. 
  2. ^ "Entrez Gene: MMAA methylmalonic aciduria (cobalamin deficiency) cblA type". 
  3. ^ Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS (December 2004). "Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism". Hum. Mutat. 24 (6): 509–16. doi:10.1002/humu.20104. PMID 15523652. 

External links[edit]

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.