Collagen, type IV, alpha 5
Protein-coding gene in humans / From Wikipedia, the free encyclopedia
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"Ca54" redirects here. For the isotope of calcium (Ca-54 or 54Ca), see Calcium-54.
Collagen alpha-5(IV) chain is a protein that in humans is encoded by the COL4A5 gene.
Quick Facts COL4A5, Identifiers ...
COL4A5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | COL4A5, ASLN, ATS, CA54, collagen type IV alpha 5, collagen type IV alpha 5 chain, ATS1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 303630 MGI: 88456 HomoloGene: 133559 GeneCards: COL4A5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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This gene encodes one of the six subunits of 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 type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Three transcript variants have been identified for this gene.[5]