Entrez gene ID | | 1281 |
Official gene symbol | | COL3A1 |
Full name | | collagen, type III, alpha 1 |
Aliases | | ,EDS4A,FLJ34534, |
Gene summary | | 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] |
Location | | Chromosome: 2 Locus: 2q31 |
Gene position | | 189839099 - 189877472 Map Viewer |
Gene orientation | | plus |
Gene size | | 38374 bp |
Gene sequence |
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OMIM ID | | 120180 |
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