Immunoprecipitation of CBS transfected lysate using anti-CBS monoclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with CBS MaxPab rabbit polyclonal antibody.
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