Gene Symbol | COL11A1 |
Entrez Gene ID | 1301 |
Full Name | collagen type XI alpha 1 chain |
Synonyms | CO11A1,COLL6,STL2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Nov 2009]. |
Disorder MIM: | |
Disorder Html: | Stickler syndrome, type II, 604841 (3); Marshall syndrome, 154780 (3); {Lumbar disc herniation, susceptibility to}, 603932 (3); Fibrochondrogenesis 1, 228520 (3) |