Collagen, type XXVII, alpha 1

Collagen, type XXVII, alpha 1 is a protein that in humans is encoded by the COL27A1 gene. This protein is a member of the fibrillar collagen family, which is a group of proteins that form the extracellular matrix in various tissues throughout the body.

Function

Collagen, type XXVII, alpha 1 is a fibrillar collagen that is expressed in cartilage and is thought to be involved in the assembly of the extracellular matrix. It is also believed to play a role in the development and maintenance of the skeletal system. Mutations in the COL27A1 gene have been associated with Steel syndrome, a rare genetic disorder characterized by short stature, joint and bone abnormalities, and other symptoms.

Structure

The COL27A1 gene is located on the long (q) arm of chromosome 9 at position 32. The protein it encodes, collagen, type XXVII, alpha 1, is composed of three alpha 1 chains that form a triple helix. Each alpha chain is made up of a series of glycine-X-Y repeats, where X and Y are often proline and hydroxyproline, respectively.

Clinical significance

Mutations in the COL27A1 gene can lead to Steel syndrome, a condition that affects the skeletal system. Symptoms of this disorder can include short stature, joint and bone abnormalities, and other symptoms. The exact mechanism by which mutations in the COL27A1 gene cause Steel syndrome is not fully understood, but it is thought to involve disruption of the normal assembly of the extracellular matrix in cartilage.

See also

• Collagen
• Fibrillar collagen
• Steel syndrome