COL8A1

Chr 3

collagen type VIII alpha 1 chain

Also known as: C3orf7

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. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…
0
Active trials
37
Pubs (1 yr)
P/LP submissions
P/LP missense
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (2)

gnomad: TimeoutError: The operation was aborted due to timeout

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

COL8A1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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