Gene Symbol | COL4A5 |
Entrez Gene ID | 1287 |
Full Name | collagen type IV alpha 5 chain |
Synonyms | ASLN,ATS,CA54 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Alport syndrome, 301050 (3) |