Entrez gene ID | | 1301 |
Official gene symbol | | COL11A1 |
Full name | | collagen, type XI, alpha 1 |
Aliases | | ,CO11A1,COLL6,STL2, |
Gene 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] |
Location | | Chromosome: 1 Locus: 1p21 |
Gene position | | 103574052 - 103342023 Map Viewer |
Gene orientation | | minus |
Gene size | | 232030 bp |
Gene sequence |
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OMIM ID | | 120280 |
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