COL11A1, Official Symbol COL11A1provided by HGNC Official Full Name collagen type XI alpha 1 chainprovided by HGNC Primary source HGNC:HGNC:2186 See related Ensembl:ENSG00000060718 MIM:120280; AllianceGenome:HGNC:2186 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as STL2; COLL6; CO11A1; DFNA37 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] Expression Biased expression in placenta (RPKM 6.4), gall bladder (RPKM 1.9) and 4 other tissues See more Orthologs mouse all