| Health / Medical Topics |
MMADHC wt Allele
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. (NCI Thesaurus)
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