| COL8A1 |
| LOCUS ID | 1295 | ||||||||||
| GENE_SYMBOL | COL8A1 | ||||||||||
| GENE NAME | collagen, type VIII, | ||||||||||
| SYNONYMNS | C3orf7 | ||||||||||
| CHROMOSOME | 3 | ||||||||||
| HOMOLOGENE ID | 22423 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrimer. Altertively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1.Lack of type VIII collagen confers renoprotection in diabetic nephropathy. One possible mechanism is that type VIII collagen permits and/or fosters mesangial cell proliferation in early diabetic nephropathy. | 19401424 |