Collagen, type V, alpha 2

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Collagen type V alpha-2 chain (COL5A2)

COL5A2 is the gene that makes the alpha-2 chain of type V collagen, a smaller but important component of connective tissue. Type V collagen is a fibrillar collagen that helps regulate how type I collagen fibers form. By guiding the assembly of these fibers, COL5A2 contributes to the strength and integrity of tissues such as skin, tendons, ligaments, cartilage, and bone.

The COL5A2 protein participates in collagen trimers and can pair with other alpha chains. It is closely related to type XI collagen, and in some tissues the type V and XI chains may combine in tissue-specific ways.

Genetics and disease: In humans, COL5A2 is located on chromosome 2 at region 2q32.2. Mutations in COL5A2 are linked to classical Ehlers-Danlos syndrome, a connective tissue disorder that can cause hypermobile joints and stretchy skin, among other symptoms.

Expression: The gene is expressed in many tissues, with notable presence in connective tissues like tendons, skin, and cartilage.