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col3a1

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Official Full Name
collagen, type III, alpha 1
Background
This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
Synonyms
COL3A1; collagen, type III, alpha 1; EDS4A; collagen alpha-1(III) chain; collagen, fetal; alpha1 (III) collagen; Ehlers-Danlos syndrome type IV, autosomal dominant; EDS4A, Ehlers Danlos syndrome type IV, autosomal dominant; FLJ34534; alpha 1 type III collagen; collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)

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