MMAA wt Allele

Preferred Label : MMAA wt Allele;

NCIt synonyms : cblA; Methylmalonic Aciduria (Cobalamin Deficiency) Type A Gene; Methylmalonic Aciduria (Cobalamin Deficiency) cblA Type Gene; Metabolism of Cobalamin Associated A wt Allele;

NCIt definition : Human MMAA wild-type allele is located in the vicinity of 4q31.21 and is approximately 61 kb in length. This allele, which encodes methylmalonic aciduria type A protein, mitochondrial, plays a role in cobalamin transport, adenosylcobalamin (AdoCbl) synthesis and GTP hydrolysis. Mutation of the gene is associated with vitamin B12-responsive methylmalonic aciduria cblA type.;

NCI Metathesaurus CUI : CL1926461;

GenBank Accession Number : AF524841;

Details

Origin ID

C203790;

UMLS CUI

C5891039;

OMIM relation
- Metabolism of cobalamin associated a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Homodimerization [NCIt concept]
- Hydrolysis [NCIt concept]
- Intracellular Transport [NCIt concept]
- Metabolic Process [NCIt concept]
- Protein Dimerization [NCIt concept]
- Transmembrane Transport [NCIt concept]

Keyword's position in hierarchy(ies) :

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