Anti-CBS / Cystathionine Beta Synthase, clone 5B5D7

0.5mg/ml if reconstituted with 0.2ml sterile DI water. CBS, Cystathionine Beta-Synthase, catalyzes the first irreversible step of transsulfuration. The CBS enzyme is a homotetramer of 63-kD subunits and requires pyridoxal phosphate and heme for activity. The CBS gene, which is mapped to chromosome 21q22, contains 23 exons, ranging in size from 42 to 299 bp. The human CBS protein can substitute for the endogenous yeast CBS protein in Saccharomyces cerevisiae. The catalytic domain of the CBS protein is located in the N-terminal 409 amino acids, and a regulatory domain is located in the C-terminal 142 amino acids.A mutation that deletes the C-terminal 145 amino acids of CBS could restore activity of several CBS mutant alleles found in homocystinurics. Protein function: Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L- homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:23981774, PubMed:20506325, PubMed:23974653). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons. [The UniProt Consortium]