Col2a1

Col2a1 (pronounced as "C-O-L-2-A-1") is a gene that encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with a variety of skeletal disorders, including Osteoarthritis, Achondrogenesis, and Spondyloepiphyseal dysplasia.

Etymology

The term "Col2a1" is derived from the words "Collagen, type II, alpha 1", which describes the protein that the gene encodes. The term "collagen" comes from the Greek "kolla," meaning "glue," and "gen," meaning "producing." This reflects the protein's role in providing structure and strength to tissues.

Function

The Col2a1 gene is responsible for producing a part of the type II collagen protein. This protein is found in the cartilage, a type of connective tissue found in various parts of the body, including the joints and the rib cage. It is also found in the vitreous humor, a gel-like substance that fills the space between the lens and the retina in the eye.

Related Terms

• Collagen: A family of proteins that provide structure and strength to various tissues in the body.
• Cartilage: A type of connective tissue found in various parts of the body, including the joints and the rib cage.
• Vitreous humor: A gel-like substance that fills the space between the lens and the retina in the eye.
• Osteoarthritis: A degenerative joint disease that can be caused by mutations in the Col2a1 gene.
• Achondrogenesis: A group of severe disorders that affect the development of cartilage and bone.
• Spondyloepiphyseal dysplasia: A group of disorders that affect the spine and the ends of the long bones in the arms and legs.

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