collagen type IV alpha 5 chain
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The COL4A5 gene provides instructions for making one piece of a protein called collagen IV. Specifically, this gene makes the alpha5(IV) chain of collagen IV. This chain combines with two other types of alpha (IV) chains (the alpha3 and alpha4 chains) to make alpha345(IV) collagen molecules. These molecules attach to each other to form complex protein networks that make up a large portion of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Alpha345(IV) collagen networks play an especially important role in the basement membranes of the kidney, inner ear, and eye.
Normal function
The COL4A5 gene provides instructions for making one piece of a protein called collagen IV. Specifically, this gene makes the alpha5(IV) chain of collagen IV. This chain combines with two other types of alpha (IV) chains (the alpha3 and alpha4 chains) to make alpha345(IV) collagen molecules. These molecules attach to each other to form complex protein networks that make up a large portion of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Alpha345(IV) collagen networks play an especially important role in the basement membranes of the kidney, inner ear, and eye.
Conditions referring to this gene or chromosome
Other names
ASLN
ATS
CA54
CO4A5_HUMAN
collagen IV, alpha-5 polypeptide
collagen of basement membrane, alpha-5 chain
collagen type IV alpha 5
collagen, type IV, alpha 5
collagen, type IV, alpha 5 (Alport syndrome)
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Leitura adicional e referências
- collagen type IV alpha 5 chain; MedlinePlus, National Library of Medicine.
- Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant. 2002 Jul;17(7):1218-27. doi: 10.1093/ndt/17.7.1218.
- Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Dahan K, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol. 2003 Oct;14(10):2603-10. doi: 10.1097/01.asn.0000090034.71205.74.
- Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schroder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000 Apr;11(4):649-657. doi: 10.1681/ASN.V114649.
- Kashtan CE. Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine (Baltimore). 1999 Sep;78(5):338-60. doi: 10.1097/00005792-199909000-00005.
- Kashtan CE. Familial hematuria due to type IV collagen mutations: Alport syndrome and thin basement membrane nephropathy. Curr Opin Pediatr. 2004 Apr;16(2):177-81. doi: 10.1097/00008480-200404000-00011.
- Nozu K, Yamamura T, Horinouchi T. Alport Syndrome. 2001 Aug 28 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1207/
- Pescucci C, Longo I, Bruttini M, Mari F, Renieri A. Type-IV collagen related diseases. J Nephrol. 2003 Mar-Apr;16(2):314-6.
- Slajpah M, Gorinsek B, Berginc G, Vizjak A, Ferluga D, Hvala A, Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria. Kidney Int. 2007 Jun;71(12):1287-95. doi: 10.1038/sj.ki.5002221. Epub 2007 Mar 28.
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