COL3A1(redirected from Ehlers-Danlos syndrome type IV autosomal dominant)
COL3A1A gene on chromosome 2q32.2 that encodes the pro-alpha1 chains of type-3 collagen, a fibrillar collagen found in extensible connective tissues (e.g., skin, lung, uterus, intestine and the vascular system), often in association with type-1 collagen.
COL3A1 mutations occur in Ehlers-Danlos syndrome type IV, and in aortic and arterial aneurysms.
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