Species Human Entrez 1281 | Human Mouse Ensembl ENSG00000168542 | |
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Aliases COL3A1, EDS4A, collagen type III alpha 1, collagen type III alpha 1 chain External IDs OMIM: 120180 MGI: 88453 HomoloGene: 55433 GeneCards: COL3A1 | ||
Collagen alpha-1(III) chain is a protein that in humans is encoded by the COL3A1 gene, which is located on chromosome 2.
Contents
Function
Collagen alpha-1(III) chain is a precursor to collagen III, a protein that is found in extensible connective tissues such as skin, lung, and the vascular system, frequently in association with type I collagen. Although alternate transcripts have been detected for this gene, they are the result of mutations; these mutations alter splicing, often leading to the exclusion of multiple exons.
Type-III collagen is a fibrous scleroprotein in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue; it yields gelatin on boiling.
Scleroprotein is a simple protein found in horny and cartilaginous tissues and in the lens of the eye.
Clinical significance
Mutations in this gene are associated with type III and IV Ehlers-Danlos syndrome and with aortic and arterial aneurysms.