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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GALNT17
polypeptide N-acetylgalactosaminyltransferase 17
Chromosome 7 · 7q11.22
NCBI Gene: 64409Ensembl: ENSG00000185274.13HGNC: HGNC:16347UniProt: Q2L4S5
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
polypeptide N-acetylgalactosaminyltransferase activityprotein O-linked glycosylationGolgi apparatusprotein O-linked glycosylation via N-acetyl-galactosamineLung Abscessbronchopneumoniaschizophreniasmoking initiation
✦AI Summary

GALNT17 encodes a polypeptide N-acetylgalactosaminyltransferase localized to the Golgi apparatus that catalyzes the initial step of O-linked oligosaccharide biosynthesis by transferring N-acetyl-D-galactosamine residues to serine or threonine residues on protein receptors. While the enzyme's canonical biochemical function involves glycan synthesis, GALNT17 has emerged as a brain-expressed gene with important roles in neurodevelopment. In mice, dysregulation of Galnt17 contributes to cerebellar and hippocampal pathologies associated with abnormalities in growth, learning, memory, and behavior, with transcriptomic evidence implicating disrupted neuron and synapse maturation, neurotransmitter signaling, and cellular stress pathways 1. GALNT17 variants are implicated in neurodevelopmental and neurodegenerative disorders: a Parkinson's disease-associated GWAS variant (rs9638616) in GALNT17 is associated with altered white matter microstructure and supplementary motor area functional connectivity, mediating effects on motor severity 2. The GALNT17 locus also contributes to social behavior regulation within the Williams-Beuren syndrome control region, with implications for autism spectrum disorder susceptibility 3. Additionally, GALNT17 genetic variants are associated with age-related cataract risk through galactose metabolism pathways 4. These findings indicate GALNT17 functions extend beyond glycosylation to encompass critical roles in CNS development and function.

Sources cited
1
GALNT17 is brain-expressed and its dysregulation contributes to cerebellar and hippocampal pathologies with abnormalities in growth, learning, memory, behavior, neuron and synapse maturation
PMID: 31554716
2
GALNT17 Parkinson's disease variant rs9638616 is associated with altered white matter fractional anisotropy and supplementary motor area functional connectivity, mediating motor severity
PMID: 38640170
3
GALNT17 is a candidate gene in the WBSCR locus for regulation of social behavior in mammals and development of autism spectrum disorder symptoms
PMID: 40943469
4
GALNT17 genetic variant rs17058752 is associated with age-related cataract risk through galactose metabolism pathways
PMID: 34954695
5
GALNT17 is a candidate gene for oligosaccharide synthesis in milk based on genome-wide association analysis
PMID: 31117955
Disease Associationsⓘ20
Lung AbscessOpen Targets
0.34Weak
bronchopneumoniaOpen Targets
0.34Weak
schizophreniaOpen Targets
0.31Weak
smoking initiationOpen Targets
0.31Weak
MyoclonusOpen Targets
0.30Weak
kidney transplantOpen Targets
0.29Weak
insomniaOpen Targets
0.28Weak
tricuspid valve diseaseOpen Targets
0.28Weak
pituitary gland diseaseOpen Targets
0.28Weak
cholelithiasisOpen Targets
0.27Weak
liver diseaseOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.27Weak
benign neoplasm of pituitary glandOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.25Weak
preeclampsiaOpen Targets
0.25Weak
duodenal ulcerOpen Targets
0.24Weak
protozoa infectious diseaseOpen Targets
0.24Weak
dislocationOpen Targets
0.23Weak
Abnormality of the skeletal systemOpen Targets
0.23Weak
mathematical abilityOpen Targets
0.22Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GALNT4Shared pathway100%GALNT6Shared pathway100%GALNT8Shared pathway100%GALNT9Shared pathway100%GALNT10Shared pathway100%GALNT16Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Ovary
46%
Brain
21%
Lung
7%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
GALNT17GALNT4GALNT6GALNT8GALNT9GALNT10GALNT16
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q2L4S5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF0.45 [0.33–0.61]
RankingsWhere GALNT17 stands among ~20K protein-coding genes
  • #14,158of 20,598
    Most Researched20
  • #4,240of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedGALNT17
Sources retrieved5 papers
Response time—
📄 Sources
5
1
A Mouse Mutation That Dysregulates Neighboring
PMID: 31554716
G3 (Bethesda) · 2019
1.00
2
Parkinson's Disease Risk Variant rs9638616 is Non-Specifically Associated with Altered Brain Structure and Function.
PMID: 38640170
J Parkinsons Dis · 2024
0.80
3
PMID: 40943469
Int J Mol Sci · 2025
0.60
4
A genome-wide association study reveals specific transferases as candidate loci for bovine milk oligosaccharides synthesis.
PMID: 31117955
BMC Genomics · 2019
0.40
5
Association of Age-Related Cataract Risk with High Polygenetic Risk Scores Involved in Galactose-Related Metabolism and Dietary Interactions.
PMID: 34954695
Lifestyle Genom · 2022
0.20