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].
collagen type III alpha 1 chain (COL3A1) 蛋白 collagen, type III, alpha 1 (Col3a1) 蛋白 collagen type III alpha 1 chain (Col3a1) 蛋白 collagen, type III, alpha 1 (COL3A1) 蛋白 collagen type III alpha 1 chain (col3a1) 蛋白 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) S homeolog (col3a1.S) 蛋白 AW550625 蛋白 Col3a-1 蛋白 col3a1 蛋白 EDS4A 蛋白 mKIAA4231 蛋白 MMS10-W 蛋白 Ms10w 蛋白