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COL11A1 / Collagen XI Alpha 1 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. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene.
Gene Name: | collagen, type XI, alpha 1 |
Family/Subfamily: | Collagen , not assigned-Collagen |
Synonyms: | COL11A1, CO11A1, COLL6, Collagen alpha-1(XI) chain, Collagen, type XI, alpha 1, STL2 |
Target Sequences: | NM_001854 NP_001845.3 P12107 |
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