COL6A5
| Type VI collagen, alpha 5 | ||
|---|---|---|
| other names |
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| Properties of human protein | ||
| Mass / length primary structure | 2,615 amino acids , 289,926 Da | |
| Isoforms | 2 | |
| Identifier | ||
| Gene names | COL6A5; VWA4 | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Eumetazoa | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 256076 | 665033 |
| Ensemble | ENSG00000172752 | ENSMUSG00000091345 |
| UniProt | A8TX70 | A6H584 |
| Refseq (mRNA) | NM_001278298 | NM_001167923 |
| Refseq (protein) | NP_001265227.1 | NP_001161395.1 |
| Gene locus | Chr 3: 130.35 - 130.48 Mb | Chr 9: 105.86 - 105.96 Mb |
| PubMed search | 256076 |
665033
|
Collagen type VI, alpha 5 is a bead-string-like collagen that the gene COL6A5 is encoded. With collagen type VI, alpha 1 and collagen type VI, alpha 2 it forms heterotrimers , which in turn form collagen fibrils of type VI.
Clinical significance
The collagen alpha-5 (VI) chain produces collagen components for the extracellular matrix of connective tissue . Type VI, alpha 5 collagen contains Von Willebrand factor type A-like domains. It has a high rate of transcription in the skin, lungs and digestive tract . A lack of COL6A5 expression leads to atopic eczema .
The COL6A5 gene is associated with familial neuropathic chronic pruritus and could serve as a potential therapeutic target .
Web links
Individual evidence
- ^ Jamie Fitzgerald, Paul Holden, Uwe Hansen: The expanded collagen VI family: new chains and new questions . In: Connect Tissue Res . No. 54, 2013, p. 6. doi : 10.3109 / 03008207.2013.822865 . PMID 23869615 .
- ↑ Cilla Söderhäll, Ingo Marenholz, Tamara Kerscher, Franz Rüschendorf, Jorge Esparza-Gordillo, Margitta Worm, Christoph Gruber, Gabriele Mayr, Mario Albrecht, Klaus Rohde, Herbert Schulz, Ulrich Wahn, Norbert Hubner, Young-Ae Lee: Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis . In: PLoS Biol . 5, No. 9, September 2007. doi : 10.1371 / journal.pbio.0050242 . PMID 17850181 . PMC 1971127 (free full text).
- ↑ F. Martinelli-Boneschi, M. Colombi, M. Castori, G. Devigili, R. Eleopra, RA Malik, M. Ritelli, N. Zoppi, C. Dordoni, M. Sorosina, P. Grammatico, H. Fadavi, MM Gerrits, R. Almomani, CG Faber, IS Merkies, D. Toniolo ,. , M. Cocca, C. Doglioni, SG Waxman, SD Dib-Hajj, MM Taiana, J. Sassone, R. Lombardi, D. Cazzato, A. Zauli, S. Santoro, M. Marchi, G. La: COL6A5 variants in familial neuropathic chronic itch. In: Brain: a journal of neurology. Volume 140, number 3, 03 2017, pp. 555-567, doi : 10.1093 / brain / aww343 , PMID 28073787 .