collagen type IV alpha 4 chain
Última atualização 5 de set. de 2023
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The COL4A4 gene provides instructions for making one piece of a protein called collagen IV. Specifically, this gene makes the alpha4(IV) chain of collagen IV. This chain combines with two other types of alpha (IV) chains (the alpha3 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 COL4A4 gene provides instructions for making one piece of a protein called collagen IV. Specifically, this gene makes the alpha4(IV) chain of collagen IV. This chain combines with two other types of alpha (IV) chains (the alpha3 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
alpha 4 type IV collagen
CA44
CO4A4_HUMAN
Collagen IV, alpha-4 polypeptide
collagen of basement membrane, alpha-4 chain
collagen type IV alpha 4
collagen, type IV, alpha 4
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Leitura adicional e referências
- collagen type IV alpha 4 chain; MedlinePlus, National Library of Medicine.
- Buzza M, Dagher H, Wang YY, Wilson D, Babon JJ, Cotton RG, Savige J. Mutations in the COL4A4 gene in thin basement membrane disease. Kidney Int. 2003 Feb;63(2):447-53. doi: 10.1046/j.1523-1755.2003.00780.x.
- 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.
- Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M. Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome. Nephrol Dial Transplant. 2003 Jun;18(6):1122-7. doi: 10.1093/ndt/gfg157.
- 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.
- Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frasca G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome. Kidney Int. 2002 Jun;61(6):1947-56. doi: 10.1046/j.1523-1755.2002.00379.x.
- 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.
- Tazon Vega B, Badenas C, Ars E, Lens X, Mila M, Darnell A, Torra R. Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases. Am J Kidney Dis. 2003 Nov;42(5):952-9. doi: 10.1016/j.ajkd.2003.08.002.
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