Type XI collagen is normally found in cartilage as well as the fluid that fills the eyeball, the inner ear, and the center portion of the discs between the vertebrae in the spine (nucleus pulposus).

The size and arrangement of type II collagen fibrils is essential for the normal structure of these tissues.

Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain.

[7] Mutations in the COL11A2 gene have been shown to cause hearing loss without other signs or symptoms (nonsyndromic deafness autosomal dominant) in two large families.

Because this type of collagen is an important component of cartilage and other connective tissues, these mutations result in the characteristic signs and symptoms of OSMED.

As a result, type XI collagen is impaired and cannot function properly, causing the skeletal and hearing problems characteristic of Stickler syndrome.

A link has been shown between ANCA-associated vasculitis and SNPs in the COL11A2 gene in a Genomewide Association Study.

It is proposed that this association may be due to linkage disequilibrium between a SNP in the HLA-DP locus and SNPs in COL11A2.