COL9A2

Description

The COL9A2 gene provides instructions for making a protein called collagen type IX alpha 2 chain. Collagen is a major component of connective tissues, which provide support and structure to various parts of the body. Collagen type IX plays a crucial role in the formation and maintenance of cartilage, a specialized connective tissue found in joints. It interacts with other collagen types, such as collagen type II, to form a complex network that gives cartilage its strength and flexibility. Mutations in the COL9A2 gene can disrupt the production or function of collagen type IX, leading to a range of disorders affecting skeletal development and joint health.

Associated Diseases

• Stickler syndrome type II
• Wagner syndrome
• Kniest dysplasia
• Severe osteochondrodysplasia with multiple dislocations
• Spondyloepiphyseal dysplasia tarda
• Progressive pseudorheumatoid dysplasia
• Chondrodysplasia with platyspondyly and rib anomalies

Did you know?

COL9A2 gene mutations can cause a wide spectrum of skeletal disorders, highlighting the importance of collagen type IX in maintaining joint integrity.