Gene: COL5A1

Alternate names for this Gene: EDSC|EDSCL1

Gene 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.3

Description of this Gene: collagen type V alpha 1 chain

Type of Gene: protein-coding

rs7032489 in COL5A1 gene and Central corneal thickness PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs12554098 in COL5A1 gene and Corneal Topography PMID 23291589 2013 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

rs764693725 in COL5A1 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

PMID 22696272 2012 Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.

rs1564455577 in COL5A1 gene and EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 PMID 23587214 2013 Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs7874142 in COL5A1 gene and Longevity PMID 20834067 2010 Joint influence of small-effect genetic variants on human longevity.

rs146717710 in COL5A1 gene and Phosphatidylcholine measurement PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.