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COL4A5

Official Full Name
collagen type IV alpha 5 chain
Organism
Homo sapiens
GeneID
1287
Background
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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
Synonyms
ATS; ASLN; ATS1; CA54;

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