Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant), also known as COL3A1, is a human gene.
PBB_Summary
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summary_text = This gene encodes 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. Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. 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. [cite web | title = Entrez Gene: COL3A1 collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1281| accessdate = ]
Type-III collagen is a fibrous scleroprotein in bone, cartilage, tendon, bone marrow stroma [ Semester 4 medical lectures at Uppsala University 2008 by Leif Jansson] 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.
See also
* Collagen
* Ehlers-Danlos syndrome
References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Kuivaniemi H, Tromp G, Prockop DJ |title=Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say. |journal=J. Clin. Invest. |volume=88 |issue= 5 |pages= 1441–4 |year= 1991 |pmid= 1939638 |doi=
*cite journal | author=Kuivaniemi H, Tromp G, Prockop DJ |title=Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. |journal=Hum. Mutat. |volume=9 |issue= 4 |pages= 300–15 |year= 1997 |pmid= 9101290 |doi= 10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9 |doilabel=10.1002/(SICI)1098-1004(1997)9:4300::AID-HUMU23.0.CO;2-9
External links
*
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