Gene Symbol | PRG4 |
Entrez Gene ID | 10216 |
Full Name | proteoglycan 4 |
Synonyms | CACP,HAPO,JCAP,MSF,SZP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a large proteoglycan that is synthesized by chondrocytes located at the surface of articular cartilage and by some synovial lining cells. This protein contains both chondroitin sulfate and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. |
Disorder MIM: | |
Disorder Html: | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3) |