COL11A2 : collagen type XI alpha 2 chain

Description

The COL11A2 (collagen type XI alpha 2 chain) is a protein-coding gene located on chromosome 6.

The COL11A2 gene provides instructions for making the pro-alpha2(XI) chain, a component of type XI collagen, which is crucial for providing structure and strength to connective tissues. Type XI collagen is found primarily in cartilage, a flexible tissue supporting the skeleton during development. It also plays a role in the inner ear and the nucleus pulposus, the center of spinal discs. Pro-alpha2(XI) combines with two other collagen chains (pro-alpha1(XI) and pro-alpha1(II)) to form a triple-stranded procollagen molecule, which is then processed into mature collagen. The mature collagen molecules assemble into long fibrils that create strong type XI collagen fibers. Type XI collagen is essential for maintaining the spacing and width of type II collagen fibrils, which are key components of mature cartilage.

The COL11A2 gene plays a crucial role in fibrillogenesis, specifically in regulating the lateral growth of collagen type II fibrils.

COL11A2 is also known as DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3.

Associated Diseases

• Stickler syndrome, type III
• Deafness, autosomal dominant nonsyndromic sensorineural 13
• Otospondylomegaepiphyseal dysplasia
• Autosomal dominant otospondylomegaepiphyseal dysplasia
• Deafness, autosomal recessive 53
• Fibrochondrogenesis
• Fibrochondrogenesis 2
• Stickler syndrome
• Weissenbacher-Zweymüller syndrome
• Nonsyndromic hearing loss