Also known as EPD1, MED, EDM1, PSACH, THBS5, cartilage oligomeric matrix protein, TSP5, CTS2
protein-coding gene in the species Homo sapiens
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].
Biological process
via MyGene.info
via Wikidata · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).