Entrez gene ID | | 1311 |
Official gene symbol | | COMP |
Full name | | cartilage oligomeric matrix protein |
Aliases | | ,EDM1,EPD1,MED,MGC131819,MGC149768,PSACH,THBS5, |
Gene summary | | The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq] |
Location | | Chromosome: 19 Locus: 19p13.1 |
Gene position | | 18902114 - 18893583 Map Viewer |
Gene orientation | | minus |
Gene size | | 8532 bp |
Gene sequence |
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OMIM ID | | 600310 |