| COL8A2 |
| LOCUS ID | 1296 | ||||||||||
| GENE_SYMBOL | COL8A2 | ||||||||||
| GENE NAME | collagen, type VIII, | ||||||||||
| SYNONYMNS | FECD, PPCD, FECD1, PPCD2 | ||||||||||
| CHROMOSOME | 1 | ||||||||||
| HOMOLOGENE ID | 55879 |
| microRNAs | NA | NA |
| GENE SUMMARY |
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| This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Altertive splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] |
| OBSERVATIONS |
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| Complication | Evidence | PMID |
| Nephropathy | 1. Induction of collagen type VIII was specific for diabetic nephropathy and did not occur in the other renal diseases studied.There was an up-regulation of collagen type VIII protein expression as shown by immunohistochemistry in the diabetic nephropathy biopsies mainly localized to mesangial cells, tubules and the interstitium | 17888087 |