Synonyms:ASLN, ATS, ATS1, CA54, COL4A5, ENTREZ:1287, HGNC:2207, MIM:303630, NM_000495, NM_033380, NM_033381, NP_000486, NP_203699, XM_011530849, XM_017029259, XM_017029260, XM_017029261, XM_017029262, XM_017029263, XP_011529151, XP_016884748, XP_016884749, XP_016884750, XP_016884751, XP_016884752, collagen type IV alpha 5 chain
Omim:OMIM:303630
Id:ENSG00000188153
Hgnc:HGNC:2207
Description:collagen type IV alpha 5 chain
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]