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; minisatellite 10w detected by probe MMS10; procollagen, type III, alpha 1
Gene Aliases: AW550625; Col3a-1; COL3A1; EDS4A; mKIAA4231; MMS10-W; Ms10w
Molecular Function: extracellular matrix structural protein