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Gene information for COL11A1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID1301
Official gene symbolCOL11A1
Full namecollagen, type XI, alpha 1
Aliases,CO11A1,COLL6,STL2,
Gene summaryThis 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]
LocationChromosome: 1   Locus: 1p21
Gene position103574052 - 103342023  Map Viewer
Gene orientationminus
Gene size232030 bp
Gene sequence
OMIM ID120280