COL11A1 : collagen type XI alpha 1 chain

Description

The COL11A1 (collagen type XI alpha 1 chain) is a protein-coding gene located on chromosome 1.

The COL11A1 gene provides instructions for making a component of type XI collagen, a protein critical for structural support in connective tissues. Type XI collagen is found in cartilage, the vitreous humor of the eye, and the nucleus pulposus of the spine. It works alongside type II collagen to maintain the structure of these tissues. The pro-alpha1(XI) chain encoded by COL11A1 combines with other collagen chains to form a triple-stranded molecule. This procollagen molecule undergoes processing to become mature collagen, which assembles into strong fibers.

COL11A1 is also known as CO11A1, COLL6, DFNA37, STL2.

Associated Diseases

• Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
• Fibrochondrogenesis 1
• Stickler syndrome, type II
• Deafness, autosomal dominant 37
• Stickler syndrome type 2
• Fibrochondrogenesis
• Marshall syndrome
• Stickler syndrome
• Intervertebral disc disease
• Osteoarthritis
• Carpal tunnel syndrome