靶标：
MMADHC
产品别名：
C2orf25； CL25022； cblD； MMADHC； metabolism of cobalamin associated D； metabolism of cobalamin associated D； cobalamin trafficking protein CblD； methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria； methylmalonic aciduria and homocystinuria type D protein, mitochondrial； protein C2orf25, mitochondrial； 2号染色体开放阅读框25；
背景信息：
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.
