Entrez gene ID | | 1287 |
Official gene symbol | | COL4A5 |
Full name | | collagen, type IV, alpha 5 |
Aliases | | ,ASLN,ATS,CA54,MGC167109,MGC42377, |
Gene 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] |
Location | | Chromosome: X Locus: Xq22 |
Gene position | | 107683154 - 107940775 Map Viewer |
Gene orientation | | plus |
Gene size | | 257622 bp |
Gene sequence |
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OMIM ID | | 303630 |
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