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COL11A1 collagen type XI alpha 1 chain

Also known as: STL2; COLL6; CO11A1

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Fibrochondrogenesis
MedGen: C0265282OMIM: 228520GeneReviews: Not available
See labs
Intervertebral disc disorder
MedGen: C0158252OMIM: 603932GeneReviews: Not available
See labs
Marshall syndrome
MedGen: C0265235OMIM: 154780GeneReviews: Not available
See labs
Stickler syndrome, type 2
MedGen: C1858084OMIM: 604841GeneReviews: Stickler Syndrome
See labs

Copy number response

Description
Copy number response
Triplosensitivity

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

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen Genome Curation PagePubMed

Genomic context

Location:
1p21.1
Sequence:
Chromosome: 1; NC_000001.11 (102876467..103108580, complement)
Total number of exons:
71

Links

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