EXT1 exostosin glycosyltransferase 1
Gene ID: 2131, updated on 11-Apr-2024Gene type: protein coding
Also known as: EXT; LGS; TTV; LGCR; TRPS2
- See all available tests in GTR for this gene
- Go to complete Gene record for EXT1
- Go to Variation Viewer for EXT1 variants
Summary
This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Chondrosarcoma | See labs |
| Exostoses, multiple, type 1 | See labs |
| Identification of 15 loci influencing height in a Korean population. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-06-17) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-17) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 8q24.11
- Sequence:
- Chromosome: 8; NC_000008.11 (117794490..118111826, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EXT1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Catalogue of Somatic Mutations in Cancer (COSMIC) - EXT1
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EXT1 gene database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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