GENETIC ENCYCLOPEDIA
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gene: COL5A1

id1289
symbolCOL5A1
organismHomo sapiens
full namecollagen type V alpha 1 chain
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. 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]
variant-disease

NM_001278074.1(COL5A1):c.3184C>T (p.Arg1062Ter) AND Ehlers-Danlos syndrome, classic type

NM_001278074.1(COL5A1):c.3906+3G>T AND Ehlers-Danlos syndrome, classic type

NM_001278074.1(COL5A1):c.3752del (p.Pro1251fs) AND Ehlers-Danlos syndrome, classic type

NM_001278074.1(COL5A1):c.3069C>T (p.Pro1023=) AND Ehlers-Danlos syndrome, type 7A

NM_001278074.1(COL5A1):c.4192G>A (p.Ala1398Thr) AND Ehlers-Danlos syndrome, type 7A

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