Gene
CHST6
carbohydrate sulfotransferase 6
- HGNC 6938(opens in a new tab)
- Ensembl gene ENSG00000183196(opens in a new tab)
- NCBI Gene 4166(opens in a new tab)
Summary
- Cytogenetic location
- 16q23.1
- Coordinates
- Chromosome 16: 75,472,052–75,495,441 (GRCh38)
- Exons
- 3 exons across 23.4 kb
- Protein
- 395 amino acids
- Previous symbols
- MCDC1
- MANE Select transcript
- ENST00000332272.9NM_021615.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Hereditary Corneal Dystrophies
- Corneal Dystrophy
A group of inherited conditions affecting one or more layers of the cornea, including Fuchs endothelial dystrophy (often linked to a TCF4 repeat expansion), TGFBI-related granular and lattice dystrophies, and rarer types caused by genes such as SLC4A11, COL8A2, ZEB1 and CHST6.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Carriers of TGFBI variants are generally advised to avoid laser refractive surgery (LASIK or PRK), which can make deposits worse; corneal transplant can restore vision in advanced disease.
How CHST6 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 8.4 kb of the gene's 23.4 kb; 1,188 of those bases code for the protein.
How a genome test reads CHST6
49
positions in CHST6 where ClinVar classes a change as pathogenic or likely pathogenic
9 of them (18%) fall in regions short reads find hard.
- Low mappability (9 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 23.4 kb of CHST6, introns included, not only the 8.4 kb of exons.
Traits linked to CHST6
The Human Phenotype Ontology lists these as features of the rare conditions CHST6 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CHST6 gene: carbohydrate sulfotransferase 6. Retrieved 16 October 2026, from https://dantelabs.com/genes/chst6
Dante Labs. CHST6 gene: carbohydrate sulfotransferase 6 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/chst6
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