Gene Symbol | ASPN |
Entrez Gene ID | 54829 |
Full Name | asporin |
Synonyms | OS3,PLAP-1,PLAP1,SLRR1C |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]. |
Disorder MIM: | |
Disorder Html: | {Osteoarthritis susceptibility 3}, 607850 (3); {Lumbar disc degeneration}, 603932 (3) |