Gene Symbol | COL3A1 |
Entrez Gene ID | 1281 |
Full Name | collagen type III alpha 1 chain |
Synonyms | EDS4A,EDSVASC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Feb 2008]. |
Disorder MIM: | |
Disorder Html: | Ehlers-Danlos syndrome, type IV, 130050 (3) |