Gene Symbol | COMP |
Entrez Gene ID | 1311 |
Full Name | cartilage oligomeric matrix protein |
Synonyms | EDM1,EPD1,MED,PSACH,THBS5,TSP5 |
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 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. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]. |
Disorder MIM: | |
Disorder Html: | Pseudoachondroplasia, 177170 (3); Epiphyseal dysplasia, multiple, 1, 132400 (3) |