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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for COL5A1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1289
Official gene symbolCOL5A1
Full namecollagen, type V, alpha 1
Aliases,-,
Gene summaryThis 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. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq]
LocationChromosome: 9   Locus: 9q34.2-q34.3
Gene position137533652 - 137736689  Map Viewer
Gene orientationplus
Gene size203038 bp
Gene sequence