CBS Antibody

Cystathionine-beta-synthase is an enzyme that in humans is encoded by the CBS gene. It is mapped to 21q22.3 and contains 23 exons, ranging in size from 42 to 299 bp. CBS catalyzes the first step of the transsulfuration pathway, from homocysteine to cystathionine. It uses the cofactor pyridoxal-phosphate (PLP) and can be allosterically regulated by effectors such as the ubiquitous cofactor S-adenosyl-L-methionine (adoMet). This enzyme belongs to the family of lyases, to be specific, the hydro-lyases, which cleave carbon-oxygen bonds. It is a multidomain enzyme composed of an N-terminal enzymatic domain and two CBS domains. The gene is the most common locus for mutations associated with homocystinuria.