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Gene Review

COL4A5  -  collagen, type IV, alpha 5

Canis lupus familiaris

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Disease relevance of COL4A5

  • X-linked Alport syndrome is a progressive renal disease caused by mutations in the COL4A5 gene, which encodes the alpha 5(IV) collagen chain [1].
  • METHODS: We examined the role of this switch in glomerular development and function using a canine model of X-linked nephritis with a COL4A5 mutation [2].

High impact information on COL4A5


Anatomical context of COL4A5


  1. Transfer of the alpha 5(IV) collagen chain gene to smooth muscle restores in vivo expression of the alpha 6(IV) collagen chain in a canine model of Alport syndrome. Harvey, S.J., Zheng, K., Jefferson, B., Moak, P., Sado, Y., Naito, I., Ninomiya, Y., Jacobs, R., Thorner, P.S. Am. J. Pathol. (2003) [Pubmed]
  2. Role of distinct type IV collagen networks in glomerular development and function. Harvey, S.J., Zheng, K., Sado, Y., Naito, I., Ninomiya, Y., Jacobs, R.M., Hudson, B.G., Thorner, P.S. Kidney Int. (1998) [Pubmed]
  3. The inner ear of dogs with X-linked nephritis provides clues to the pathogenesis of hearing loss in X-linked Alport syndrome. Harvey, S.J., Mount, R., Sado, Y., Naito, I., Ninomiya, Y., Harrison, R., Jefferson, B., Jacobs, R., Thorner, P.S. Am. J. Pathol. (2001) [Pubmed]
  4. Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys. Heidet, L., Cai, Y., Guicharnaud, L., Antignac, C., Gubler, M.C. Am. J. Pathol. (2000) [Pubmed]
  5. Genetic cause of X-linked Alport syndrome in a family of domestic dogs. Cox, M.L., Lees, G.E., Kashtan, C.E., Murphy, K.E. Mamm. Genome (2003) [Pubmed]
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