COL5A1 collagen type V alpha 1 chain
Gene ID: 1289, updated on 28-Oct-2024Gene type: protein coding
Also known as: EDSC; FMDMF; EDSCL1
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- Go to complete Gene record for COL5A1
- Go to Variation Viewer for COL5A1 variants
Summary
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of central corneal thickness in Latinos. GeneReviews: Not available | |
| Ehlers-Danlos syndrome, classic type, 1 | See labs |
| Fibromuscular dysplasia, multifocal | See labs |
| Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. GeneReviews: Not available | |
| Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. GeneReviews: Not available | |
| Joint influence of small-effect genetic variants on human longevity. GeneReviews: Not available | |
| Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease. GeneReviews: Not available | |
| New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. GeneReviews: Not available | |
| Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2017-12-14) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2017-12-14) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 9q34.3
- Sequence:
- Chromosome: 9; NC_000009.12 (134641803..134844843)
- Total number of exons:
- 68
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL5A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- COL5A1 @ LOVD
- 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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