GENETIC ENCYCLOPEDIA
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gene: COMP

id1311
symbolCOMP
organismHomo sapiens
full namecartilage oligomeric matrix protein
summaryThe 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]
variant-disease

NM_000095.3(COMP):c.1414G>T (p.Asp472Tyr) AND Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

NM_000095.3(COMP):c.982T>C (p.Cys328Arg) AND Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

NM_000095.3(COMP):c.1358A>G (p.Asn453Ser) AND Epiphyseal dysplasia, multiple, 1, severe

NM_000095.3(COMP):c.1042T>C (p.Cys348Arg) AND Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

NM_000095.3(COMP):c.1586C>T (p.Thr529Ile) AND Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

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