MMADHC
Description This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]   Source
Gene Symbol MMADHC Gene
Protein Name methylmalonic aciduria and homocystinuria type D protein, mitochondrial Uniprot
Synonyms cblD; C2orf25 and 5 more synonyms used to describe this biomarker that Amplion uses in its algorithms.

Associated Biomarker Indications

Biomarkers sample