CHSY1 Antibody – Rabbit Polyclonal

This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]

CHSY1: Has both beta-1,3-glucuronic acid and beta-1,4-N- acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Involved in the negative control of osteogenesis likely through the modulation of NOTCH signaling. Defects in CHSY1 are the cause of Temtamy preaxial brachydactyly syndrome (TPBS). A syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism. Belongs to the chondroitin N- acetylgalactosaminyltransferase family.

Protein type: EC 2.4.1.226; Glycan Metabolism - chondroitin sulfate biosynthesis; EC 2.4.1.175; Transferase; Membrane protein, integral

Chromosomal Location of Human Ortholog: 15q26.3

Cellular Component: extracellular region; Golgi membrane; integral to membrane; membrane

Molecular Function: glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity; metal ion binding; N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity

Biological Process: chondrocyte development; chondroitin sulfate biosynthetic process; negative regulation of ossification; positive regulation of smoothened signaling pathway; proximal/distal pattern formation; response to nutrient levels; sulfation

Disease: Temtamy Preaxial Brachydactyly Syndrome