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COL11A1 collagen type XI alpha 1 chain

Also known as: STL2; COLL6; CO11A1


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]

Associated conditions

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MedGen: C0265282OMIM: 228520GeneReviews: Not available
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Intervertebral disc disorder
MedGen: C0158252OMIM: 603932GeneReviews: Not available
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Marshall syndrome
MedGen: C0265235OMIM: 154780GeneReviews: Not available
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Stickler syndrome, type 2
MedGen: C1858084OMIM: 604841GeneReviews: Stickler Syndrome
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Copy number response

Copy number response

No evidence available (Last evaluated (2011-10-19)

ClinGen Genome Curation Page

Little evidence for dosage pathogenicity (Last evaluated (2011-10-19)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 1; NC_000001.11 (102876467..103108580, complement)
Total number of exons:


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