The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use at an assay dependent concentration.
ELISA titre using peptide based assay 1/62500.
Use a concentration of 1 µg/ml. Detects a band of approximately 39, 50 kDa (predicted molecular weight: 33 kDa). Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
FunctionInvolved in cobalamin metabolism.
Tissue specificityWidely expressed at high levels.
Involvement in diseaseDefects 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).