| Name | collagen, type IV, alpha 6 |
| Symbol | COL4A6 |
| Aliases | collagen IV, alpha-6 polypeptide; collagen of basement membrane, alpha-6 |
| Gene Product | - type IV alpha 6 collagen isoform A precursor
- type IV alpha 6 collagen isoform B precursor
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| Category | |
| UniGene |
Hs.408
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| 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. |
| Gene Ontology | |
| Expression | | EST (50 ESTs, 32 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain |  | | | cervix | | | | colon | | | | embryo | | | | esophagus | | | | eye | | | | heart | | | | lung | | | | mammary gland | | | | muscle | | | | nervous | | | | prostate | | | | skin | | | | stomach | | | | uncharacterized tissue | | | | uterus | | |
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| SAGE (2211163 tags, 42 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain | | | | cervix | | | | colon | | | | eye | | | | mammary gland | | | | mesothelial tissue | | | | muscle | | | | nervous | | | | ovary | | | | prostate | | | | stomach | | | | uncharacterized tissue | | | | vascular | | |
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| Evidence | Deletion in System Syndrom with Kidney Involvment
Other key publications related to this gene
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