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COL2A1 collagen type II alpha 1 chain

Also known as: AOM; ANFH; SEDC; STL1; COL11A3

Summary

This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Achondrogenesis, type II
MedGen: C0220685OMIM: 200610GeneReviews: Not available
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Avascular necrosis of the head of femur
MedGen: C0410480OMIM: 608805GeneReviews: Not available
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Coxa plana
MedGen: C0023234OMIM: 150600GeneReviews: Not available
not available
Czech dysplasia metatarsal type
MedGen: C1836683OMIM: 609162GeneReviews: Not available
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Epiphyseal dysplasia, multiple, with myopia and conductive deafness
MedGen: C1851536OMIM: 132450GeneReviews: Not available
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Kniest dysplasia
MedGen: C0265279OMIM: 156550GeneReviews: Not available
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Osteoarthritis with mild chondrodysplasia
MedGen: C1858079OMIM: 604864GeneReviews: Not available
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Otospondylomegaepiphyseal dysplasia
MedGen: C0432210OMIM: 215150GeneReviews: Not available
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Platyspondylic lethal skeletal dysplasia Torrance type
MedGen: C1835437OMIM: 151210GeneReviews: Not available
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Spondyloepiphyseal dysplasia
MedGen: C0038015OMIM: 183900GeneReviews: Not available
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Spondyloepiphyseal dysplasia, stanescu type
MedGen: C4225273OMIM: 616583GeneReviews: Not available
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Spondylometaphyseal dysplasia
MedGen: C0700635OMIM: 184250GeneReviews: Not available
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Spondyloperipheral dysplasia
MedGen: C0796173OMIM: 271700GeneReviews: Not available
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Stickler syndrome type 1
MedGen: C2020284OMIM: 108300GeneReviews: Stickler Syndrome
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Stickler syndrome, type I, nonsyndromic ocular
MedGen: C1836080OMIM: 609508GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-02-23)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-02-23)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
12q13.11
Sequence:
Chromosome: 12; NC_000012.12 (47972965..48006212, complement)
Total number of exons:
57

Links

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