COL3

COL3 or Collagen, type III, alpha 1 is a protein that in humans is encoded by the COL3A1 gene. It is one of several types of collagen, which are the primary structural proteins in various connective tissues.

Function

COL3 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. Mutations in the COL3A1 gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms.

Structure

The COL3A1 gene produces an RNA message that is over 14 kb long. The message codes for the pro-alpha1(III) chain, which undergoes processing within the cell to become the alpha1(III) chain of mature type III collagen. The mature chain is approximately 1400 amino acids long and is characterized by a large number of repeating Gly-X-Y sequences.

Clinical significance

Mutations in this gene are associated with Ehlers-Danlos syndrome type IV, and with aortic and arterial aneurysms. At least 30 mutations in the COL3A1 gene have been identified in people with the vascular type of Ehlers-Danlos syndrome, which is also known as EDS type IV.

See also

• Collagen
• Ehlers-Danlos syndrome
• Gene
• Protein

External links

• COL3A1 at the National Center for Biotechnology Information

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