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
Gene: LOC101448202
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs863223458 in
COL5A1;LOC101448202 gene and
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
PMID 7695699 1994 Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution.
PMID 19344236 2009 Collagen structure and stability.
PMID 8218237 1993 Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence.
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.