- Source: Collagen, type IV, alpha 5
Collagen 5.180.24.3/info/alpha" target="_blank">alpha-5(IV) chain is a protein that in humans is encoded by the COL4A5 gene.
This gene encodes one of the six subunits of 5.180.24.3/info/type" target="_blank">type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the 5.180.24.3/info/type" target="_blank">type IV collagen gene family, this gene is organized in a head-to-head conformation with another 5.180.24.3/info/type" target="_blank">type IV collagen gene so that each gene pair shares a common promoter. Three transcript variants have been identified for this gene.
Disease Databases
ARUP COL4A5 gene variant database
LOVD Alport gene variant databases (COL4A5, COL4A3, COL4A4)
See also
Collagen
5.180.24.3/info/type" target="_blank">Type-IV collagen
Alport syndrome
References
Further reading
Kata Kunci Pencarian:
- Collagen, type IV, alpha 5
- Type IV collagen
- Collagen, type IV, alpha 1
- Collagen, type VII, alpha 1
- Collagen, type IV, alpha 2
- Collagen, type III, alpha 1
- Collagen, type I, alpha 1
- Collagen, type IV, alpha 6
- Collagen, type I, alpha 2
- Collagen