CHST3 carbohydrate sulfotransferase 3
Gene ID: 9469, updated on 14-Nov-2024Gene type: protein coding
Also known as: HSD; C6ST; C6ST1
- See all available tests in GTR for this gene
- Go to complete Gene record for CHST3
- Go to Variation Viewer for CHST3 variants
Summary
This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutations in this gene are associated with spondylepiphyseal dysplasia and humerospinal dysostosis. [provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Larsen-like syndrome, B3GAT3 type MedGen: C3278404OMIM: 245600GeneReviews: Hypertrophic Cardiomyopathy Overview, Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related | See labs |
| Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant. GeneReviews: Not available | |
| Spondyloepiphyseal dysplasia with congenital joint dislocations MedGen: C1837657OMIM: 143095GeneReviews: Long QT Syndrome Overview, Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related | See labs |
Genomic context
- Location:
- 10q22.1
- Sequence:
- Chromosome: 10; NC_000010.11 (71964395..72013558)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHST3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CHST3 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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