COL2A1 : collagen type II alpha 1 chain

Description

The COL2A1 (collagen type II alpha 1 chain) is a protein-coding gene located on chromosome 12.

The COL2A1 gene provides instructions for making one component of type II collagen, called the pro-alpha1(II) chain. Type II collagen adds structure and strength to the connective tissues that support the body's muscles, joints, organs, and skin. Type II collagen is found primarily in cartilage, a tough but flexible tissue that makes up much of the skeleton during early development. Most cartilage is later replaced by bone, except for the cartilage that continues to cover and protect the ends of bones and the cartilage that is present in the nose and external ears. Type II collagen is also part of the inner ear, the clear gel that fills the eyeball (the vitreous), and the center portion (nucleus pulposus) of the discs between the bones of the spine (vertebrae). To construct type II collagen, three pro-alpha1(II) chains twist together to form a triple-stranded, rope-like procollagen molecule. Procollagen molecules are then processed by enzymes in the cell. Once processed, the molecules leave the cell and arrange themselves into long, thin fibrils that link to one another (cross-link) in the spaces around cells. The cross-linkages result in the formation of very strong, mature type II collagen fibers.

COL2A1 plays a crucial role in the formation and function of cartilage, a specialized connective tissue. It is essential for the proper development of the skeleton during embryonic stages and for the continuous growth of bones. Additionally, COL2A1 ensures the resilience of cartilage, enabling it to withstand the compressive forces encountered in daily activities.

COL2A1 is also known as ANFH, AOM, COL11A3, SEDC, STL1.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing