Gene Symbol | CHSY1 |
Entrez Gene ID | 22856 |
Full Name | chondroitin sulfate synthase 1 |
Synonyms | CHSY,CSS1,ChSy-1,TPBS |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Temtamy preaxial brachydactyly syndrome, 605282 (3) |