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COL3A1

Official Full Name
collagen type III alpha 1 chain
Organism
Homo sapiens
GeneID
1281
Background
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 type IV, and with aortic and arterial aneurysms. [provided by R. Dalgleish, Feb 2008]
Synonyms
EDS4A; EDSVASC; PMGEDSV;

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