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COL4A5 / Collagen IV Alpha5 is 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. Alternatively spliced transcript variants have been identified for this gene.
Gene Name: | collagen, type IV, alpha 5 |
Family/Subfamily: | Collagen , not assigned-Collagen |
Synonyms: | COL4A5, Alport syndrome, ASLN, ATS, CA54, Collagen, type IV, alpha 5, DA149D17.3, Collagen alpha 5(iv), Collagen alpha-5(IV) chain, DA24A23.1 |
Target Sequences: | NM_000495 NP_000486.1 P29400 |
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