Biology:Cartilage oligomeric matrix protein

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Cartilage oligomeric matrix protein (COMP), also known as thrombospondin-5, is an extracellular matrix (ECM) protein primarily present in cartilage. In humans it is encoded by the COMP gene.

Function

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 disulfide bonds. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED).

COMP is a marker of cartilage turnover. It is present in high quantities in fibrotic scars and systemic sclerosis, and it appears to have a role in vascular wall remodeling.

Further reading

• "Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments". American Journal of Medical Genetics 106 (4): 244–50. 2002. doi:10.1002/ajmg.10234. PMID 11891674. 
• "Transcriptional mechanism of COMP gene expression and chondrogenesis". Journal of Musculoskeletal & Neuronal Interactions 5 (4): 340–1. 2006. PMID 16340129. 
• "Cartilage oligomeric matrix protein level in rheumatic diseases: potential use as a marker for measuring articular cartilage damage and/or the therapeutic efficacy of treatments". Annals of the New York Academy of Sciences 1108 (1): 398–407. Jun 2007. doi:10.1196/annals.1422.041. PMID 17894003. 
• "Cartilage and bone metabolism in rheumatoid arthritis. Differences between rapid and slow progression of disease identified by serum markers of cartilage metabolism". The Journal of Clinical Investigation 95 (3): 1071–7. Mar 1995. doi:10.1172/JCI117753. PMID 7533784. 
• "Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia". Nature Genetics 10 (3): 325–9. Jul 1995. doi:10.1038/ng0795-325. PMID 7670471. 
• "Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene". Nature Genetics 10 (3): 330–6. Jul 1995. doi:10.1038/ng0795-330. PMID 7670472. 
• "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. Jan 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• "Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19". American Journal of Human Genetics 54 (1): 3–10. Jan 1994. PMID 8279467. 
• "Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19". Genomics 18 (3): 656–60. Dec 1993. doi:10.1016/S0888-7543(05)80369-6. PMID 8307576. 
• "Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family". American Journal of Medical Genetics 68 (4): 396–400. Feb 1997. doi:10.1002/(SICI)1096-8628(19970211)68:4<396::AID-AJMG4>3.0.CO;2-K. PMID 9021009. 
• "Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein". Clinical Genetics 51 (4): 219–24. Apr 1997. doi:10.1111/j.1399-0004.1997.tb02458.x. PMID 9184241. 
• "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. Oct 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• "Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum". American Journal of Human Genetics 62 (2): 311–9. Feb 1998. doi:10.1086/301713. PMID 9463320. 
• "Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen". The Journal of Biological Chemistry 273 (32): 20397–403. Aug 1998. doi:10.1074/jbc.273.32.20397. PMID 9685393. 
• "Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues". Matrix Biology 17 (4): 269–78. Aug 1998. doi:10.1016/S0945-053X(98)90080-4. PMID 9749943. 
• "Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene". Human Molecular Genetics 8 (1): 123–8. Jan 1999. doi:10.1093/hmg/8.1.123. PMID 9887340. 
• "Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia". Human Genetics 103 (6): 633–8. Dec 1998. doi:10.1007/s004390050883. PMID 9921895. 
• "Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia". American Journal of Medical Genetics 85 (5): 486–90. Aug 1999. doi:10.1002/(SICI)1096-8628(19990827)85:5<486::AID-AJMG10>3.0.CO;2-O. PMID 10405447. 
• "Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX". The Journal of Biological Chemistry 276 (9): 6083–92. Mar 2001. doi:10.1074/jbc.M009512200. PMID 11084047. 

External links

• GeneReviews/NCBI/NIH/UW entry on Pseudoachondroplasia
• GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant
• cartilage+matrix+protein at the US National Library of Medicine Medical Subject Headings (MeSH)