VCAN gene
The VCAN gene provides instructions for the versican core protein, which is essential for maintaining the structure of tissues and the gel-like consistency of the eye's vitreous.
Normal Function
The VCAN gene provides instructions for making the versican core protein. This large protein is found in the extracellular matrix, the intricate lattice of molecules that provides structure and support between cells. In the eye, this protein helps maintain the gel-like consistency of the vitreous, the clear fluid that fills the eyeball.
Researchers believe the versican core protein also regulates growth factors involved in cell growth, division, maturation, adhesion, and migration. It is also thought to be involved in wound healing, inflammation, the formation of new blood vessels (angiogenesis), and the prevention of cancerous tumor growth.
Health Conditions Related to Genetic Changes
Wagner syndrome
Pathogenic variants in the VCAN gene cause Wagner syndrome, a condition characterized by progressive vision loss.
- Mechanism: Most pathogenic variants occur in intron 7 and intron 8 of the gene. These variants disrupt the production of various isoforms of the versican core protein within the vitreous. This imbalance impairs the protein's ability to interact with other molecules, disrupting the gel-like consistency of the vitreous and affecting the retina, leading to vision problems.
Other Names for This Gene
- chondroitin sulfate proteoglycan 2
- chondroitin sulfate proteoglycan core protein
- CSPG2
- PG-M
- versican proteoglycan