COL9A1 : collagen type IX alpha 1 chain
Description
The COL9A1 (collagen type IX alpha 1 chain) is a protein-coding gene located on chromosome 6.
The COL9A1 gene provides instructions for making part of a large molecule called type IX collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, cartilage, tendons, and ligaments. Type IX collagen is an important component of cartilage, which is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type IX collagen is made up of three proteins that are produced from three distinct genes: one α1(IX) chain, which is produced from the COL9A1 gene, one α2(IX) chain, which is produced from the COL9A2 gene, and one α3(IX) chain, which is produced from the COL9A3 gene. Type IX collagen is more flexible than other types of collagen molecules and is closely associated with type II collagen. Researchers believe that the flexible nature of type IX collagen allows it to act as a bridge that connects type II collagen with other cartilage components. Studies have shown that type IX collagen also interacts with the proteins produced from the MATN3 and COMP genes.
COL9A1 is also known as DJ149L1.1.2, EDM6, MED, STL4.
Associated Diseases
- Autosomal recessive Stickler syndrome
- Multiple epiphyseal dysplasia due to collagen 9 anomaly
- Epiphyseal dysplasia, multiple, 6
- Stickler syndrome, type IV
- Stickler syndrome
- Multiple epiphyseal dysplasia
