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COL8A2 collagen type VIII alpha 2 chain

Gene ID: 1296, updated on 3-Oct-2018
Also known as: FECD; PPCD; FECD1; PPCD2

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Corneal dystrophy, Fuchs endothelial 1
MedGen: C1850959OMIM: 136800GeneReviews: Not available
See labs
Corneal dystrophy, posterior polymorphous, 2
MedGen: C1852795OMIM: 609140GeneReviews: Not available
See labs

Genomic context

Location:
1p34.3
Sequence:
Chromosome: 1; NC_000001.11 (36095236..36126207, complement)
Total number of exons:
5

Links

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