Chondroitin sulfate synthase 1 (CHSY1)

Chondroitin sulfate synthase 1 (CHSY1) is an enzyme encoded by the CHSY1 gene, functioning as a bifunctional glycosyltransferase with both glucuronyltransferase and galactosaminyltransferase activities[1][5]. It catalyzes the elongation of chondroitin sulfate glycosaminoglycan chains by alternately adding glucuronic acid and N-acetylgalactosamine to form the characteristic polysaccharide backbone of chondroitin sulfate[1][3][5]. This glycosaminoglycan is a key constituent of the extracellular matrix and is vital for normal cartilage development, morphogenesis, and cell proliferation[1][2][3]. Dysregulation or mutation of CHSY1 is implicated in the congenital disorder Temtamy preaxial brachydactyly syndrome, and overexpression is associated with increased malignancy and poor prognosis in several cancers, including glioma and hepatocellular carcinoma, by modulating growth factor signaling pathways such as those governed by PDGFRA[3][5]. There are currently no approved drugs directly targeting CHSY1; its measurement is primarily of research or diagnostic interest[2][3][5].

Other names

CSS1CHSYChSy-1KIAA0990Chondroitin synthase 1Chondroitin glucuronyltransferase 1N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1

Not directly drug-targeted, but CHSY1 increases cell surface chondroitin sulfate, modulating growth factor signaling (notably PDGFRA), potentially affecting tumor proliferation and response to tyrosine kinase inhibitors[3].