COL11A1 encodes 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. A single-nucleotide polymorphism in COL11A1 is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for COL11A1 .
