Collagen III is a fibrillar collagen that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with type I Collagen. Mutations in th gene are associated with Ehlers Danlos syndrome type IV, and with aortic and arterial aneurysms. Although alternate transcripts have been detected for this gene, they are the result of mutations; these mutations alter splicing, often leading to the exclusion of multiple exons.
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Protein Aliases: alpha1 (III) collagen; COL 3; COL3; COL3 alpha 1; Collagen 3; Collagen alpha-1(III) chain; collagen, fetal; collagen, type III, alpha 1; Collagen3; Ehlers-Danlos syndrome type IV, autosomal dominant; FLJ34534; MGC93704
Gene Aliases: COL3A1; EDS4A
UniProt ID: (Human) Q15112
Entrez Gene ID: (Human) 1281
Molecular Function: extracellular matrix structural protein