COL9A1

COL9A1

COL9A1 (pronounced as "C-O-L-9-A-1"), also known as Collagen Type IX Alpha 1 Chain, is a protein that in humans is encoded by the COL9A1 gene.

Etymology

The term COL9A1 is derived from the words Collagen, referring to the type of protein it encodes, and Type IX Alpha 1 Chain, indicating its specific type and structure.

Function

The COL9A1 gene provides instructions for making a component of type IX collagen. Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, which is a tough, flexible tissue that makes up much of the skeleton during early development.

Clinical significance

Mutations in the COL9A1 gene have been associated with multiple epiphyseal dysplasia, a form of osteochondrodysplasia, and intervertebral disc disease.

Related terms

• Protein
• Gene
• Cartilage
• Epiphyseal dysplasia
• Osteochondrodysplasia
• Intervertebral disc disease

See also

• Collagen, type IX, alpha 1
• COL9A2
• COL9A3

This WikiMD.org article is a stub. You can help make it a full article.