Cystathionine β-synthase (CBS; E.C. 4.2.1.22) is a PLP-dependent enzyme which plays a central role in sulfur amino acid metabolism in eukaryotes. CBS catalyzes condensation between serine and homocysteine to generate cystathionine, which is then further processed by cystathionine γ-lyase to yield cysteine. The gene encoding CBS is essentially linked to the genetic disorders of homocystinuria and Down syndrome. Homocystinuria is an autosomal recessive disease, characterized by high plasma levels of homocysteine, with clinical manifestations including mental retardation, thromboembolism and connective tissue defects. In addition, CBS also mediates synthesis of hydrogen sulfide by catalyzing condensation between cysteine and homocysteine. CBS is highly expressed in the nervous system, liver and kidney and is responsible for up to 95% of the H2S production in the brain.
