MMADHC Proteins
(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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5 results
MMADHC
Origin: Human
Host: Wheat germ
Recombinant
ELISA, AP, AA, WB
1 image
MMADHC
Origin: Human
Host: Escherichia coli (E. coli)
Recombinant
> 90 % by SDS - PAGE
SDS
1 image
MMADHC
Origin: Human
Host: HEK-293 Cells
Recombinant
> 80 % as determined by SDS-PAGE and Coomassie blue staining
AbP, STD
1 image
Aliases for MMADHC Proteins
methylmalonic aciduria and homocystinuria, cblD type (MMADHC) Proteinsmethylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (Mmadhc) Proteins
methylmalonic aciduria and homocystinuria, cblD type (Mmadhc) Proteins
2010311D03Rik Proteins
AI314967 Proteins
C2orf25 Proteins
cblD Proteins
CL25022 Proteins
RGD1303272 Proteins
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