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Collagen, type III, alpha-1
COL3A1 encodes for fibrillar-forming collagen, type III. This is made up of three alpha-1 chains and is a key component of extracellular matrix in many internal organs and skin. Mutations in this gene are associated with the vascular type of Ehlers-Danlos syndrome (EDS Type IV), and with aortic and arterial aneurysms. Single point mutations, exon deletions and exon-skipping splice site mutations have been reported. No genotype/phenotype correlations have been reported to date with these various mutation types.