MMADHC Proteine
(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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MMADHC
Spezies: Human
Wirt: Wheat germ
Recombinant
ELISA, AP, AA, WB
1 image
MMADHC
Spezies: Human
Wirt: Escherichia coli (E. coli)
Recombinant
> 90 % by SDS - PAGE
SDS
1 image
MMADHC
Spezies: Human
Wirt: HEK-293 Cells
Recombinant
> 80 % as determined by SDS-PAGE and Coomassie blue staining
AbP, STD
1 image
Aliase für MMADHC Proteine
methylmalonic aciduria and homocystinuria, cblD type (MMADHC) Proteinemethylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria (Mmadhc) Proteine
methylmalonic aciduria and homocystinuria, cblD type (Mmadhc) Proteine
2010311D03Rik Proteine
AI314967 Proteine
C2orf25 Proteine
cblD Proteine
CL25022 Proteine
RGD1303272 Proteine
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