MMAA

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MMAA
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases MMAA, cblA, methylmalonic aciduria (cobalamin deficiency) cblA type
External IDs MGI: 1923805 HomoloGene: 14586 GeneCards: MMAA
Gene location (Human)
Chromosome 4 (human)
Chr. Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for MMAA
Genomic location for MMAA
Band 4q31.21 Start 145,618,263 bp[1]
End 145,660,035 bp[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_172250

NM_133823

RefSeq (protein)

NP_758454

NP_598584

Location (UCSC) Chr 4: 145.62 – 145.66 Mb Chr 4: 79.26 – 79.29 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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[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.[6]

Clinical significance[edit]

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

References[edit]

  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:". 
  4. ^ "Mouse PubMed Reference:". 
  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. doi:10.1073/pnas.242614799. PMC 137755Freely accessible. 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. 

External links[edit]

Further reading[edit]

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