| collagen, type IV, alpha 6 | OKDB#: 4671 |
| Symbols: | COL4A6 | Species: | human | ||
| Synonyms: | DELXq22.3, CXDELq22.3, MGC88184, | Locus: | Xq22 in Homo sapiens |
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| General Comment | NCBI Summary: This gene encodes one of the six subunits of type IV collagen, the major structural component 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, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008] | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | April 27, 2012, 3:04 a.m. | by: |
hsueh email:
home page: |
| last update: | April 27, 2012, 3:04 a.m. | by: | hsueh email: |
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