C2orf25 Protein, CL25022 Protein, cblD Protein, 2010311D03Rik Protein, AI314967 Protein, RGD1303272 Protein, methylmalonic aciduria and homocystinuria, cblD type Protein, methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria Protein, MMADHC Protein, Mmadhc Protein
Sujet
MMADHC is 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. Recombinant human MMADHC protein, fused to His-tag at N-terminus, was expressed in E.coli and purified by using conventional chromatography techniques.