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MMAA

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MMAA
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesMMAA, cblA, methylmalonic aciduria (cobalamin deficiency) cblA type, metabolism of cobalamin associated A
External IDsOMIM: 607481 MGI: 1923805 HomoloGene: 14586 GeneCards: MMAA
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_172250
NM_001375644

NM_133823
NM_001363470
NM_001363471
NM_001363472

RefSeq (protein)

NP_758454

NP_598584
NP_001350399
NP_001350400
NP_001350401

Location (UCSC)Chr 4: 145.6 – 145.66 MbChr 8: 79.26 – 79.29 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.[5]

Function

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.[6]

Clinical significance

Mutations in the MMAA gene are associated with methylmalonic acidemia.[5][7]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000151611 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037022 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. Bibcode:2002PNAS...9915554D. doi:10.1073/pnas.242614799. PMC 137755. PMID 12438653.
  6. ^ "Entrez Gene: MMAA methylmalonic aciduria (cobalamin deficiency) cblA type".
  7. ^ 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. S2CID 34883155.

Further reading

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



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MMAA
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