COMP

Also known as EPD1, MED, EDM1, PSACH, THBS5, cartilage oligomeric matrix protein, TSP5, CTS2

protein-coding gene in the species Homo sapiens

Gene data

COMP

Name: cartilage oligomeric matrix protein
Type: protein-coding
Position: 18,782,773–18,791,305 (−)
Aliases: CTS2, EDM1, EPD1, MED, PSACH, THBS5, TSP-5, TSP5
Ensembl: ENSG00000105664
RefSeq RNA: NM_000095.3
RefSeq protein: NP_000086.2

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].