COL8A2
LOCUS ID1296
GENE_SYMBOLCOL8A2
GENE NAMEcollagen, type VIII, alpha 2
SYNONYMNSFECD, PPCD, FECD1, PPCD2
CHROMOSOME1
HOMOLOGENE ID55879
microRNAsNANA
GENE SUMMARY
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

Complication Evidence PMID
Nephropathy1. 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 interstitium17888087