MMADHC 蛋白
(Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, with Homocystinuria (MMADHC))
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].
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Aliases for MMADHC 蛋白
methylmalonic aciduria and homocystinuria, cblD type (MMADHC) 蛋白methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (Mmadhc) 蛋白
methylmalonic aciduria and homocystinuria, cblD type (Mmadhc) 蛋白
2010311D03Rik 蛋白
AI314967 蛋白
C2orf25 蛋白
cblD 蛋白
CL25022 蛋白
RGD1303272 蛋白
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