Collagen Type XI Alpha 1 (COL11a1)

Collagen alpha-1(XI) chain is one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. Three transcript variants encoding different isoforms have been identified for this gene.

The findings demonstrate that collagen XI is essential for normal formation of cartilage collagen fibrils and the cohesive properties of cartilage. The results also suggest that the normal differentiation and spatial organization of growth plate chondrocytes are critically dependent on the presence of type XI collagen in cartilage extracellular matrix.