CHST14 carbohydrate sulfotransferase 14
Gene ID: 113189, updated on 11-Apr-2024Gene type: protein coding
Also known as: ATCS; D4ST1; EDSMC1; HNK1ST
- See all available tests in GTR for this gene
- Go to complete Gene record for CHST14
- Go to Variation Viewer for CHST14 variants
Summary
This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ehlers-Danlos syndrome, musculocontractural type 1 | See labs |
Genomic context
- Location:
- 15q15.1
- Sequence:
- Chromosome: 15; NC_000015.10 (40470984..40473158)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHST14 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CHST14 @ 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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