| Gene Symbol | COL3A1 |
| Entrez Gene ID | 1281 |
| Full Name | collagen type III alpha 1 chain |
| Synonyms | EDS4A,EDSVASC |
| General protein information |
|
| 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) |

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