COL8A1
LOCUS ID1295
GENE_SYMBOLCOL8A1
GENE NAMEcollagen, type VIII, alpha 1
SYNONYMNSC3orf7
CHROMOSOME3
HOMOLOGENE ID22423
microRNAsNANA
GENE SUMMARY
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

Complication Evidence PMID
Nephropathy1.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