Definition of COL2A1
COL2A1: The gene responsible for the production of the alpha1(II) chain of type II collagen. Mutations in the COL2A1 gene lead to a number of different heritable skeletal disorders, including achondrogenesis type II, hypochondrogenesis, Kniest dysplasia, spondyloepimetaphyseal dysplasia of the Strudwick type, spondyloepiphyseal dysplasia congenita, and Stickler syndrome. Type II collagen, which adds structure and strength to connective tissues, is found primarily in cartilage, the gel that fills the eyeball (vitreous body), inner ear, and the center portion of the discs between the vertebrae in the spine (nucleus pulposus). There are two forms of type II collagen made in the body. One version, type IIA, is made mainly in the vitreous body of the eye. The second version, type IIB, is preferentially produced in adult cartilage tissue.Collagen II is initially produced as type II procollagen, a protein consisting of three pro-alpha1(II) chains twisted together to form a triple-stranded helical (spiral-shaped) molecule. While in the cell, enzymes modify certain amino acids (the building blocks of proteins), specifically lysine and proline, by adding chemical groups that are necessary for the strands to come together in a stable structure and then cross-link with other molecules. Other enzymes add sugars to the protein. The triple-stranded type II procollagen molecule leaves the cell and is converted to collagen by enzymes that clip small segments off both ends. The collagen molecules arrange themselves into long, thin fibrils outside of the cell. The fibrils come together in side-by-side groups to form collagen fibers. Cross-linking between molecules in fibrils produces a very stable protein structure, which contributes to collagen's tissue-strengthening function.
Xanya Sofra Weiss
No comments:
Post a Comment