MMAA
Sign in to saveAlso known as cblA, methylmalonic aciduria (cobalamin deficiency) cblA type, metabolism of cobalamin associated A
Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.
Gene data
MMAA- Name
- metabolism of cobalamin associated A
- Type
- protein-coding
- Position
- 145,599,042–145,660,033 (+)
- Aliases
- cblA
- Ensembl
- ENSG00000151611
- RefSeq RNA
- NM_001375644.1, NM_172250.3, XM_011531684.4, XM_054349101.1
- RefSeq protein
- NP_001362573.1, NP_758454.1, XP_011529986.1, XP_054205076.1
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. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008].
Gene Ontology
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
metabolism of cobalamin associated A
- Symbol
- MMAA
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 4:145,599,042-145,660,033
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 14586
- exact match
- identifiers.org/ncbigene/166785
- genomic end
- 145660033
- genomic start
- 145599042
- cytogenetic location
- 4q31.21
Sources (6)
via Wikidata · CC0
~1 min read
Article
5 sectionsContents
- Function
- Clinical significance
- References
- External links
- Further reading
Methylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.
==Function==