The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
>90% by SDS-PAGE. ab177650 was purified using conventional chromatography techniques.
Concentration information loading...
Preparation and Storage
Stability and Storage
Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.
Information available upon request.
Chromosome 2 open reading frame 25
Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Methylmalonic aciduria and homocystinuria type D protein
methylmalonic aciduria and homocystinuria type D protein, mitochondrial
Protein C2orf25, mitochondrial
Involved in cobalamin metabolism.
Widely expressed at high levels.
Involvement in disease
Defects in MMADHC are the cause of methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]. A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2).