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Gene information for COL3A1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1281
Official gene symbolCOL3A1
Full namecollagen, type III, alpha 1
Aliases,EDS4A,FLJ34534,
Gene summaryThis 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]
LocationChromosome: 2   Locus: 2q31
Gene position189839099 - 189877472  Map Viewer
Gene orientationplus
Gene size38374 bp
Gene sequence
OMIM ID120180