COL18A1 collagen type XVIII alpha 1 chain
Gene ID: 80781, updated on 17-Aug-2024Gene type: protein coding
Also known as: KS; KNO; GLCC; KNO1
- See all available tests in GTR for this gene
- Go to complete Gene record for COL18A1
- Go to Variation Viewer for COL18A1 variants
Summary
This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Glaucoma, primary closed-angle | See labs |
| Knobloch syndrome 1 | See labs |
| Multiple loci influencing hippocampal degeneration identified by genome scan. GeneReviews: Not available |
Genomic context
- Location:
- 21q22.3
- Sequence:
- Chromosome: 21; NC_000021.9 (45405165..45513720)
- Total number of exons:
- 43
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL18A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- COL18A1 database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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