Collagen V (COL5A1) Human collagen, type V, alpha 1 gene基因表達質(zhì)粒敲除編輯載體

RefSeq NM_000093.2, NP_000084.2
RefSeq Size 6496 bp
RefSeq ORF 5517 bp
Locus ID 1289
Protein Families Druggable Genome
Protein Pathways ECM-receptor interaction, Focal adhesion
MW 183.4 kDa
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.

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