Western blot analysis of CBS over-expressed 293 cell line, cotransfected with CBS Validated Chimera RNAi ( Cat # H00000875-R01V ) (Lane 2) or non-transfected control (Lane 1). Blot probed with CBS monoclonal antibody (M01), clone 3E1 (Cat # H00000875-M01 ). GAPDH ( 36.1 kDa ) used as specificity and loading control.
The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. [provided by RefSeq