基因名:
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:
C2ORF25 is a mitochondrial protein and its function is not fully identified. But, Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to adenosylcobalamin in mitochondria and to methylcobalamin in cytoplasm is necessary for homeostasis of methylmalonic acid and homocysteine. C2ORF25 encodes a protein involved in an early step of cobalamin metabolism.