COL3A1
COL3A1 (pronunciation: /koʊlˈθriːeɪˈwʌn/) is a gene that encodes the protein type III collagen. This protein is a major component of the Extracellular matrix in various connective tissues and is particularly abundant in the Skin, Lungs, and Vascular system.
Etymology
The term "COL3A1" is derived from the words "Collagen, type III, alpha 1", which describes the protein that the gene encodes. The prefix "COL" stands for "collagen", "3" refers to the type III collagen, "A" stands for "alpha", and "1" indicates that it is the first gene of this type identified.
Function
The COL3A1 gene provides instructions for making a component of type III collagen. This type of collagen is a flexible protein that forms the structure of many tissues, including skin, lung, and the vascular system. Mutations in the COL3A1 gene can lead to disorders such as Ehlers-Danlos syndrome, which affects the connective tissues in the body.
Related Terms
- Collagen: A protein that forms the structure of many tissues in the body.
- Extracellular matrix: A complex network of proteins and carbohydrates that provides structural and biochemical support to surrounding cells.
- Ehlers-Danlos syndrome: A group of disorders that affect the connective tissues in the body.
- Vascular system: The body's network of blood vessels, including arteries, veins, and capillaries.
- Skin: The outer covering of the body.
- Lungs: A pair of respiratory organs where oxygen is taken in and carbon dioxide is expelled out.
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