COL8A1 collagen type VIII alpha 1 chain
Gene ID: 1295, updated on 28-Oct-2024Gene type: protein coding
Also known as: C3orf7
- See all available tests in GTR for this gene
- Go to complete Gene record for COL8A1
- Go to Variation Viewer for COL8A1 variants
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. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants at 1p36 are associated with superior frontal gyrus volume. GeneReviews: Not available | |
| Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. GeneReviews: Not available | |
| Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. GeneReviews: Not available | |
| Seven new loci associated with age-related macular degeneration. GeneReviews: Not available |
Genomic context
- Location:
- 3q12.1
- Sequence:
- Chromosome: 3; NC_000003.12 (99638594..99799217)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL8A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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