MMADHC wt Allele

Preferred Label : MMADHC wt Allele;

NCIt synonyms : C2orf25 wt Allele; CL25022; Methylmalonic Aciduria, cblD Type, and Homocystinuria Gene; HSPC161; Methylmalonic Aciduria (Cobalamin Deficiency) cblD Type, with Homocystinuria wt Allele; C2orf25; Chromosome 2 Open Reading Frame 25 Gene; My011; cblD;

NCIt definition : Human MMADHC wild-type allele is located in the vicinity of 2q23.2 and is approximately 18 kb in length. This allele, which encodes Methylmalonic aciduria and homocystinuria type D protein, mitochondrial, plays a role in the mediation of vitamin B12 metabolism. Mutation of the gene is associated with some cases of homocystinuria, and methylmalonic aciduria.;

GenBank Accession Number : BC023995;

Details

Origin ID

C74466;

UMLS CUI

C2698587;

OMIM relation
- Metabolism of cobalamin associated D [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Intermediary Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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