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col11a1

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Official Full Name
collagen, type XI, alpha 1
Background
This gene 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 this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene.
Synonyms
COL11A1; collagen, type XI, alpha 1; COLL6; collagen alpha-1(XI) chain; CO11A1; collagen XI; alpha 1 polypeptide; STL2; Collagen alpha 1; collagen XI alpha 1; collagen XI, alpha 1 polypeptide; STL3; XI chain precursor; OTTHUMP00000012567; OTTHUMP00000218241; collagen XI, alpha-1 polypeptide