cellular communication network factor 6
The CCN6 gene provides instructions for making a protein that appears to be involved in bone growth and the maintenance of cartilage, which covers and protects the ends of bones. The function of the CCN6 protein is not well understood. It is part of a family of proteins that are involved in the growth and maintenance of connective tissues, such as bone, cartilage, and blood vessels. The CCN6 protein is made in cells called chondrocytes, which produce and maintain cartilage, and is associated with the production of certain proteins that make up cartilage, but its role in their production is unclear. CCN6 may also help control signaling pathways involved in the development of cartilage and bone and may help regulate the breakdown of cartilage components.
Mutations in the CCN6 gene cause progressive pseudorheumatoid dysplasia (PPRD), which is a condition that causes stiffness and pain in the joints of the hands, hips, knees, and spine. The joint problems worsen over time, and movement in the joints becomes limited. Most of the mutations involved in this condition lead to production of an abnormally short CCN6 protein that is probably nonfunctional. Other mutations change single protein building blocks (amino acids) in the protein. Loss of CCN6 protein function likely disrupts normal cartilage maintenance and bone growth, leading to the joint problems in PPRD.
Genetics Home Reference provides information about juvenile idiopathic arthritis.
- CCN family member 6
- WNT1 inducible signaling pathway protein 3
- WNT1-inducible-signaling pathway protein 3