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.
Ig target: Alpha 1 type III collagen;Alpha1 (III) collagen;CO3A1;COL 3A1;COL3A1;Collagen alpha 1(III) chain;Collagen alpha-1(III) chain;Collagen III alpha 1 chain precursor;Collagen III alpha 1 polypeptide;Collagen type III alpha 1 (Ehlers Danlos syndrome type IV autosomal dominant);Collagen type III alpha 1;Collagen type III alpha 1 chain;Collagen type III alpha;Collagen;fetal;EDS4A;Ehlers Danlos syndrome type IV;autosomal dominant;Fetal collagen;Type III collagen
Area di ricerca:Cancer;Signal Transduction;Stem Cells
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