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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.
Gene Name: | collagen, type III, alpha 1 |
Family/Subfamily: | Collagen , not assigned-Collagen |
Synonyms: | COL3A1, Alpha1 (III) collagen, Collagen alpha 1(iii), Collagen alpha-1(III) chain, Collagen, type III, alpha 1, Collagen, fetal, EDS4A |
Target Sequences: | NM_000090 NP_000081.1 P02461 |
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