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. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene.

WB 1:500 - 1:2000
IHC 1:50 - 1:200
IF 1:50 - 1:200

Recombinant fusion protein containing a sequence corresponding to amino acids 252-551 of human CBS (NP_000062.1).

Unmodified

-20°C