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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GALNTL6
polypeptide N-acetylgalactosaminyltransferase like 6
Chromosome 4 · 4q34.1
NCBI Gene: 442117Ensembl: ENSG00000174473.17HGNC: HGNC:33844UniProt: E5D8G0
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
polypeptide N-acetylgalactosaminyltransferase activityprotein O-linked glycosylation via N-acetyl-galactosamineprotein O-linked glycosylationGolgi apparatussmoking initiationovarian neoplasmAbnormality of the skeletal systemovarian dysfunction
✦AI Summary

GALNTL6 encodes a polypeptide N-acetylgalactosaminyltransferase that catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, transferring N-acetyl-D-galactosamine residues to serine or threonine residues on protein receptors in the Golgi apparatus. Beyond its canonical glycosylation function, GALNTL6 has emerged as a pleiotropic locus associated with multiple phenotypes. A long non-coding RNA (linc-GALNTL6-4) is adipocyte-specific and co-segregates with obesity, with knockdown impairing adipogenesis and inducing lipid metabolism dysfunction and inflammation 1. The GALNTL6 rs558129 polymorphism shows robust associations with athletic phenotypes: the T allele confers 5-6% higher anaerobic power and is overrepresented in power and strength athletes compared to endurance athletes and controls 2, with meta-analysis confirming the T/T genotype as more prevalent in power athletes 3. Conversely, the C allele associates with endurance performance 4. Genetically, GALNTL6 variants link to cardiometabolic traits and sepsis-associated acute kidney injury susceptibility 5, and loss-of-function of the zebrafish ortholog galntl6 modulates Duchenne muscular dystrophy severity 6. Additionally, GALNTL6 variants predict asparaginase-associated pancreatitis risk in childhood leukemia 7, and GALNTL6 amplification associates with intermediate/high-risk papillary thyroid carcinoma 8.

Sources cited
1
linc-GALNTL6-4 is adipocyte-specific and dysregulated in obesity; its knockdown impairs adipogenesis and lipid metabolism
PMID: 39362599
2
GALNTL6 rs558129 T allele associates with increased anaerobic power performance and is overrepresented in power/strength athletes
PMID: 33105351
3
Meta-analysis confirms GALNTL6 rs558129 T/T genotype more prevalent in power athletes than controls
PMID: 40055285
4
GALNTL6 rs558129 C allele associates with elite endurance athlete status
PMID: 26824906
5
GALNTL6 variants associate with sepsis-associated acute kidney injury and cardiometabolic traits
PMID: 40810581
6
Zebrafish galntl6 loss-of-function acts as a modifier of Duchenne muscular dystrophy severity
PMID: 40475573
7
GALNTL6 rs1505495 variant is a predictive feature for asparaginase-associated pancreatitis in childhood acute lymphoblastic leukemia
PMID: 35226426
8
GALNTL6 amplification is more frequent in intermediate/high-risk papillary thyroid carcinomas
PMID: 25863487
Disease Associationsⓘ20
smoking initiationOpen Targets
0.37Weak
ovarian neoplasmOpen Targets
0.36Weak
Abnormality of the skeletal systemOpen Targets
0.34Weak
ovarian dysfunctionOpen Targets
0.34Weak
liver diseaseOpen Targets
0.32Weak
autoimmune thyroid diseaseOpen Targets
0.31Weak
sweat gland diseaseOpen Targets
0.31Weak
multinodular goiterOpen Targets
0.30Weak
dyshidrosisOpen Targets
0.29Weak
hypersomniaOpen Targets
0.29Weak
sleep apneaOpen Targets
0.28Weak
HydrocephalusOpen Targets
0.28Weak
lens diseaseOpen Targets
0.28Weak
post term pregnancyOpen Targets
0.28Weak
tympanic membrane diseaseOpen Targets
0.28Weak
type 1 diabetes nephropathyOpen Targets
0.28Weak
placenta praeviaOpen Targets
0.28Weak
balanoposthitisOpen Targets
0.28Weak
ocular hypotensionOpen Targets
0.27Weak
smoking behaviorOpen Targets
0.26Weak
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
Brain
100%
Bone Marrow
79%
Lung
9%
Liver
8%
Ovary
6%
Heart
5%
Gene Interaction Network
Click a node to explore
GALNTL6GALNT4GALNT6GALNT8GALNT9GALNT10GALNT16
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q49A17
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.78LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.42–0.78]
RankingsWhere GALNTL6 stands among ~20K protein-coding genes
  • #17,059of 20,598
    Most Researched10
  • #6,354of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedGALNTL6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A novel long non-coding RNA connects obesity to impaired adipocyte function.
PMID: 39362599
Mol Metab · 2024
1.00
2
Obesity- and Lipid-Related Traits May Causally Contribute to Sepsis-Associated Acute Kidney Injury.
PMID: 40810581
Crit Care Med · 2025
0.90
3
The GALNTL6 Gene rs558129 Polymorphism Is Associated With Power Performance.
PMID: 33105351
J Strength Cond Res · 2020
0.80
4
Candidate gene polymorphisms and power athlete status: a meta-analytical approach.
PMID: 40055285
J Physiol Biochem · 2025
0.70
5
Validation of Duchenne muscular dystrophy candidate modifiers using a CRISPR-Cas9-based approach in zebrafish.
PMID: 40475573
bioRxiv · 2025
0.60