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Beschreibung

Cystathionine beta-synthase (EC 4.2.1.22, UniProt P35520, also known as beta-thionase, Methylcysteine synthase, Serine sulfhydrase) is encoded by the CBS (also known as HIP4) gene (Gene ID 875) in human. Cystathionine beta-synthase catalyzes the trans-sulfuration of homocysteine and serine to form the cysteine precursor cystathionine in the folate pathway. Cysteine is an essential substrate for the biosynthesis of glutathione, a major endogenous antioxidant. CBS deficiency results in altered sulfur metabolism and homocystinuria characterized by increased urinary homocystine and methionine. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events.