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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CHST8
carbohydrate sulfotransferase 8
Chromosome 19 · 19q13.11
NCBI Gene: 64377Ensembl: ENSG00000124302.14HGNC: HGNC:15993UniProt: Q9H2A9
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsulfur compound metabolic processproteoglycan biosynthetic processhormone biosynthetic processpeeling skin syndrome type Aalcohol drinkingpreeclampsiafrozen shoulder
✦AI Summary

CHST8 encodes a Golgi-localized sulfotransferase that catalyzes sulfation of N-acetylgalactosamine (GalNAc) residues at the 4-position of both N-linked and O-linked glycans 1. The enzyme is essential for biosynthesis of glycoprotein hormones, particularly lutropin and thyrotropin, by mediating sulfation of their carbohydrate structures. CHST8 specifically modifies terminal β1,4-linked GalNAc on glycoproteins rather than glycosaminoglycans 1. CHST8 mutations have been associated with autosomal recessive peeling skin syndrome (PSS) type A. A homozygous missense mutation (c.229C>T, R77W) was identified in consanguineous families with non-inflammatory PSS, with evidence suggesting loss-of-function through accelerated protein degradation 2. However, subsequent functional analysis demonstrated that the R77W variant exhibits normal catalytic activity and processing, indicating it likely represents a benign polymorphism rather than a disease-causing mutation 1. Beyond dermatological associations, CHST8 has been identified as a candidate gene in obesity-related epigenetic studies, with differential DNA methylation signatures observed in obese versus non-obese individuals and changes following bariatric surgery 3. A Drosophila functional screen identified CHST8 as a potential functional target gene for human BMI GWAS loci 4. Additionally, CHST8 is expressed in von Economo neurons of human anterior cingulate cortex, suggesting roles in social-emotional brain function 5.

Sources cited
1
CHST8 encodes GalNAc-4-ST1 sulfotransferase that modifies terminal β1,4-linked GalNAc on N- and O-linked oligosaccharides; R77W variant has normal catalytic activity
PMID: 28204496
2
Homozygous CHST8 c.229C>T (R77W) mutation identified in peeling skin syndrome type A; loss-of-function through accelerated protein degradation
PMID: 22289416
3
CHST8 shows differential DNA methylation signatures in obese patients; methylation changes associated with bariatric surgery outcomes
PMID: 34599748
4
CHST8 identified as functional target gene for human BMI GWAS loci in Drosophila tissue-specific knockdown screen
PMID: 29608557
5
CHST8 is expressed in von Economo neurons of human anterior cingulate cortex; identified as VEN-associated gene marker
PMID: 30535007
Disease Associationsⓘ20
peeling skin syndrome type AOpen Targets
0.40Weak
alcohol drinkingOpen Targets
0.39Weak
preeclampsiaOpen Targets
0.31Weak
frozen shoulderOpen Targets
0.20Weak
peeling skin syndromeOpen Targets
0.12Weak
46,XX gonadal dysgenesisOpen Targets
0.08Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
Testicular regression syndromeOpen Targets
0.07Suggestive
Kallmann syndromeOpen Targets
0.06Suggestive
partial androgen insensitivity syndromeOpen Targets
0.06Suggestive
46,XY gonadal dysgenesis - motor and sensory neuropathyOpen Targets
0.06Suggestive
46,XY gonadal dysgenesis-motor and sensory neuropathy syndromeOpen Targets
0.06Suggestive
46,XX testicular disorder of sex developmentOpen Targets
0.06Suggestive
46,XY sex reversal 11Open Targets
0.06Suggestive
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyOpen Targets
0.06Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.05Suggestive
hypogonadotropic hypogonadismOpen Targets
0.05Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.05Suggestive
ovarian dysgenesis 9Open Targets
0.05Suggestive
Hypergonadotropic hypogonadism - cataract syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
B4GALNT4Protein interaction92%B4GALNT3Protein interaction92%CA6Protein interaction88%CHST9Protein interaction78%CGAProtein interaction76%LHBProtein interaction76%
Tissue Expression6 tissues
Brain
100%
Ovary
62%
Heart
10%
Liver
8%
Lung
7%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
CHST8B4GALNT4B4GALNT3CA6CHST9CGALHB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H2A9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.41–1.00]
RankingsWhere CHST8 stands among ~20K protein-coding genes
  • #13,622of 20,598
    Most Researched22
  • #9,681of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedCHST8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Clinical epigenetics and restoring of metabolic health in severely obese patients undergoing batriatric and metabolic surgery.
PMID: 34599748
Updates Surg · 2022
1.00
2
Conditional transformation of mouse liver epithelial cells. An in vitro model for analysis of genetic events in hepatocarcinogenesis.
PMID: 7495305
Am J Pathol · 1995
0.90
3
Growth-suppressive function of human connexin32 in a conditional immortalized mouse hepatocyte cell line.
PMID: 11710436
In Vitro Cell Dev Biol Anim · 2001
0.80
4
The glycan-specific sulfotransferase (R77W)GalNAc-4-ST1 putatively responsible for peeling skin syndrome has normal properties consistent with a simple sequence polymorphisim.
PMID: 28204496
Glycobiology · 2017
0.70
5
A high throughput, functional screen of human Body Mass Index GWAS loci using tissue-specific RNAi Drosophila melanogaster crosses.
PMID: 29608557
PLoS Genet · 2018
0.60