Entrez gene ID | | 1286 |
Official gene symbol | | COL4A4 |
Full name | | collagen, type IV, alpha 4 |
Aliases | | ,CA44, |
Gene summary | | This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. 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. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq] |
Location | | Chromosome: 2 Locus: 2q35-q37 |
Gene position | | 228029275 - 227867427 Map Viewer |
Gene orientation | | minus |
Gene size | | 161849 bp |
Gene sequence |
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OMIM ID | | 120131 |
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