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COMP cartilage oligomeric matrix protein

Gene ID: 1311, updated on 16-Apr-2024
Gene type: protein coding
Also known as: MED; CTS2; EDM1; EPD1; TSP5; PSACH; THBS5; TSP-5

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Carpal tunnel syndrome 2
MedGen: C5436916OMIM: 619161GeneReviews: Not available
See labs
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
GeneReviews: Not available
Multiple epiphyseal dysplasia type 1See labs
Pseudoachondroplastic spondyloepiphyseal dysplasia syndromeSee labs

Genomic context

Location:
19p13.11
Sequence:
Chromosome: 19; NC_000019.10 (18782773..18791305, complement)
Total number of exons:
19

Links

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