MMADHC ELISA试剂盒
(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 ELISA试剂盒
methylmalonic aciduria and homocystinuria, cblD type (MMADHC) ELISA试剂盒methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (Mmadhc) ELISA试剂盒
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