collagen type IV alpha 3 chain
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The COL4A3 gene provides instructions for making one piece of a protein called collagen IV. Specifically, this gene makes the alpha3(IV) chain of collagen IV. This chain combines with two other types of alpha (IV) chains (the alpha4 and alpha5 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 COL4A3 gene provides instructions for making one piece of a protein called collagen IV. Specifically, this gene makes the alpha3(IV) chain of collagen IV. This chain combines with two other types of alpha (IV) chains (the alpha4 and alpha5 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
CO4A3_HUMAN
collagen IV, alpha-3 polypeptide
collagen type IV alpha 3
collagen, type IV, alpha 3 (Goodpasture antigen)
Goodpasture antigen
TUMSTATIN
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Vidare läsning och referenser
- collagen type IV alpha 3 chain; MedlinePlus, National Library of Medicine.
- Gregory MC. The clinical features of thin basement membrane nephropathy. Semin Nephrol. 2005 May;25(3):140-5. doi: 10.1016/j.semnephrol.2005.01.004.
- Kashtan CE, Ding J, Garosi G, Heidet L, Massella L, Nakanishi K, Nozu K, Renieri A, Rheault M, Wang F, Gross O. Alport syndrome: a unified classification of genetic disorders of collagen IV alpha345: a position paper of the Alport Syndrome Classification Working Group. Kidney Int. 2018 May;93(5):1045-1051. doi: 10.1016/j.kint.2017.12.018. Epub 2018 Mar 16.
- 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, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int. 2004 May;65(5):1598-603. doi: 10.1111/j.1523-1755.2004.00560.x.
- Rana K, Wang YY, Buzza M, Tonna S, Zhang KW, Lin T, Sin L, Padavarat S, Savige J. The genetics of thin basement membrane nephropathy. Semin Nephrol. 2005 May;25(3):163-70. doi: 10.1016/j.semnephrol.2005.01.008.
- 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.
- Wang YY, Rana K, Tonna S, Lin T, Sin L, Savige J. COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN). Kidney Int. 2004 Mar;65(3):786-90. doi: 10.1111/j.1523-1755.2004.00453.x.
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5 Sept 2023 | Senaste versionen
1 sept 2023 | Ursprungligen publicerad
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