Collagen type XI alpha-2 chain (COL11A2)

Collagen type XI alpha-2 chain is a protein encoded by the COL11A2 gene and is a minor fibrillar collagen forming a part of type XI collagen, critical for the structure and strength of connective tissues such as cartilage, tendons, and components of the developing skeleton. It assembles together with other collagen chains—specifically pro-alpha1(XI) and pro-alpha1(II)—to form the triple-helix structure of type XI collagen, which in turn regulates fibril assembly, spacing, and the organization of type II collagen. This regulation is crucial for proper cartilage matrix formation and mechanical properties of tendons, as well as for development of various other tissues. Mutations in COL11A2 are associated with several severe skeletal and connective tissue disorders, including fibrochondrogenesis, otospondylomegaepiphyseal dysplasia, specific forms of hereditary deafness, and Stickler syndrome type III. There are currently no drugs that act specifically on this protein and it is not considered a therapeutic target in the sense of receptors, enzymes, or conventional drug targets. It is, however, important as a genetic biomarker for certain inherited skeletal and auditory disorders.

Other names

Collagen alpha-2(XI) chainCOL11A2HKE5DFNA13DFNB53FBCG2OSMEDAOSMEDBPARPSTL3pro-alpha2(XI) chain of collagen type XI

Not applicable (no approved drugs directly targeting COL11A2)