COL9A3 : collagen type IX alpha 3 chain
Description
The COL9A3 (collagen type IX alpha 3 chain) is a protein-coding gene located on chromosome 20.
The COL9A3 gene provides instructions for making part of type IX collagen, a vital component of cartilage. Type IX collagen is composed of three protein chains, with one being produced from the COL9A3 gene. This collagen type is more flexible than other types, enabling it to act as a bridge connecting type II collagen to other cartilage components. Additionally, type IX collagen interacts with proteins from MATN3 and COMP genes.
COL9A3 is also known as DJ885L7.4.1, EDM3, IDD, MED, STL6.
Associated Diseases
- Multiple epiphyseal dysplasia due to collagen 9 anomaly
- Stickler syndrome, type VI
- Epiphyseal dysplasia, multiple, 3, with or without myopathy
- Autosomal recessive Stickler syndrome
- Stickler syndrome
- Multiple epiphyseal dysplasia
- Intervertebral disc disease
