ACAN : aggrecan
Description
The ACAN gene provides instructions for making aggrecan, a crucial protein found in cartilage, the tough, flexible tissue that cushions joints. Aggrecan acts as a shock absorber, helping to prevent bones from rubbing against each other. It also plays a vital role in maintaining the structure and integrity of cartilage. Mutations in the ACAN gene can disrupt aggrecan production, leading to various health issues.
Associated Diseases
- Osteoarthritis
- Achondrogenesis
- Spondyloepiphyseal dysplasia
- Multiple epiphyseal dysplasia
- Schmid type metaphyseal chondrodysplasia
Did you know?
Aggrecan is a giant protein, one of the largest proteins found in the human body.