Aliases for MMADHC Gene
External Ids for MMADHC Gene
Previous HGNC Symbols for MMADHC Gene
Previous GeneCards Identifiers for MMADHC Gene
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]
GeneCards Summary for MMADHC Gene
MMADHC (Methylmalonic Aciduria And Homocystinuria, CblD Type) is a Protein Coding gene. Diseases associated with MMADHC include methylmalonic aciduria and homocystinuria, cbld type and methylmalonic acidemia with homocystinuria, type cbld. Among its related pathways are Cobalamin (Cbl, vitamin B12) transport and metabolism and Diseases of metabolism.
UniProtKB/Swiss-Prot for MMADHC Gene
Involved in cobalamin metabolism.