Collagen, type III, alpha 1
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Collagen alpha-1(III) chain is a protein that in humans is encoded by the COL3A1 gene,[1][2] which is located on chromosome 2.
Contents
Function
Collagen alpha-1(III) chain is a fibrillar collagen 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.[3]
Type-III collagen is a fibrous scleroprotein in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue; 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.
See also
Further reading
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External links
- GeneReview/NCBI/NIH/UW entry on Ehlers-Danlos Syndrome Type IV
- Collagen type III at the US National Library of Medicine Medical Subject Headings (MeSH)
References
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