COMP

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]

该基因编码的蛋白质为一种非胶原蛋白型细胞外基质（ECM）蛋白。该蛋白由五个相同的糖蛋白亚基组成，每个亚基均含有表皮生长因子样（EGF-like）和钙结合（血栓生成素样）结构域。寡聚化通过形成五股螺旋卷曲和二硫键来实现。与其他ECM蛋白，如胶原蛋白的结合，似乎依赖于二价阳离子。5个天冬氨酸重复序列的收缩或扩张以及其他突变可能导致假性骨发育不良（PSACH）和多发性干骺端发育不良（MED）。[参考资料：RefSeq，2016年7月]