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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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GNPTG
N-acetylglucosamine-1-phosphate transferase subunit gamma
Chromosome 16 Β· 16p13.3
NCBI Gene: 84572Ensembl: ENSG00000090581.12HGNC: HGNC:23026UniProt: Q9UJJ9
49PubMed Papers
21Diseases
0Drugs
153Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcarbohydrate phosphorylationGolgi apparatusextracellular exosomeGNPTG-mucolipidosisRetinal dystrophyRod-cone dystrophymucolipidosis
✦AI Summary

GNPTG encodes the gamma subunit of N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase), a non-catalytic component essential for lysosomal enzyme trafficking 1. This enzyme complex catalyzes the formation of mannose 6-phosphate (M6P) markers on lysosomal hydrolases in the Golgi apparatus, enabling their proper targeting to lysosomes 2. The gamma subunit binds and presents high mannose glycans to the catalytic alpha/beta subunits encoded by GNPTAB, enhancing the rate of phosphate transfer to acceptor oligosaccharides 1. GNPTG associates with the GlcNAc-1-phosphotransferase complex in the Golgi and is crucial for maintaining enzyme stability 2. Pathogenic variants in GNPTG cause mucolipidosis type III gamma (MLIII gamma), an autosomal recessive lysosomal storage disorder characterized by defective lysosomal enzyme trafficking and cellular accumulation of undegraded macromolecules 34. Unlike GNPTAB mutations that cause more severe phenotypes including impaired bone resorption, GNPTG mutations specifically result in MLIII gamma with distinct clinical features and preserved bone remodeling 5. The protein plays a fundamental role in lysosomal biogenesis and has been identified as a potential therapeutic target in chr16 kidney disease and calcific aortic valve disease 67.

Sources cited
1
GNPTG encodes the gamma subunit of GlcNAc-1-phosphotransferase and causes mucolipidosis when mutated
PMID: 30882951
2
GNPTG associates with GlcNAc-1-phosphotransferase in the Golgi and is essential for lysosomal enzyme trafficking
PMID: 36074822
3
GNPTG mutations cause mucolipidosis type III gamma, a lysosomal storage disorder
PMID: 34172897
4
Novel GNPTG mutations identified in MLIII gamma patients affect enzyme function
PMID: 19370764
5
GNPTG mutations have distinct effects on bone remodeling compared to GNPTAB mutations
PMID: 34341521
6
GNPTG identified as potential therapeutic target for chronic kidney disease
PMID: 38898508
7
GNPTG identified as potential therapeutic target for calcific aortic valve disease
PMID: 39922081
Disease Associationsβ“˜21
GNPTG-mucolipidosisOpen Targets
0.84Strong
Retinal dystrophyOpen Targets
0.45Moderate
Rod-cone dystrophyOpen Targets
0.43Moderate
mucolipidosisOpen Targets
0.33Weak
genetic disorderOpen Targets
0.19Weak
type 2 diabetes mellitusOpen Targets
0.08Suggestive
diabetes mellitusOpen Targets
0.08Suggestive
glycogen storage disease due to lactate dehydrogenase H-subunit deficiencyOpen Targets
0.07Suggestive
alcohol sensitivity, acuteOpen Targets
0.05Suggestive
acatalasiaOpen Targets
0.05Suggestive
Platelet-activating factor acetylhydrolase deficiencyOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
galactokinase deficiencyOpen Targets
0.03Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.03Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.03Suggestive
congenital dyserythropoietic anemia type 4Open Targets
0.03Suggestive
Congenital dyserythropoietic anemia type IVOpen Targets
0.03Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.03Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
hemolytic anemia due to glutathione reductase deficiencyOpen Targets
0.03Suggestive
Mucolipidosis type III complementation group CUniProt
Pathogenic Variants153
NM_032520.5(GNPTG):c.617_638dup (p.Phe213fs)Likely pathogenic
GNPTG-mucolipidosis
β˜…β˜…β˜†β˜†2026β†’ Residue 213
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del)Pathogenic
GNPTG-mucolipidosis|not provided|Rod-cone dystrophy|Retinal dystrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 116
NM_032520.5(GNPTG):c.714del (p.Phe239fs)Pathogenic
not provided|GNPTG-mucolipidosis
β˜…β˜…β˜†β˜†2026β†’ Residue 239
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)Pathogenic
GNPTG-mucolipidosis|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 106
NM_032520.5(GNPTG):c.658A>T (p.Lys220Ter)Pathogenic
GNPTG-mucolipidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 220
NM_032520.5(GNPTG):c.559C>T (p.Gln187Ter)Pathogenic
not provided|GNPTG-mucolipidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 187
NM_032520.5(GNPTG):c.514dup (p.His172fs)Pathogenic
GNPTG-mucolipidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 172
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter)Pathogenic
GNPTG-mucolipidosis|not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 66
NM_032520.5(GNPTG):c.53-2A>GLikely pathogenic
GNPTG-mucolipidosis|not provided
β˜…β˜…β˜†β˜†2025
NM_032520.5(GNPTG):c.478_479insTAGG (p.Ala160fs)Pathogenic
GNPTG-mucolipidosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 160
NM_032520.5(GNPTG):c.607dup (p.Gln203fs)Pathogenic
GNPTG-mucolipidosis|not provided|Rod-cone dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 203
NM_032520.5(GNPTG):c.638_639del (p.Leu212_Phe213insTer)Pathogenic
GNPTG-mucolipidosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 212
NM_032520.5(GNPTG):c.461_465del (p.Pro154fs)Pathogenic
not provided|GNPTG-mucolipidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 154
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs)Pathogenic
GNPTG-mucolipidosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 167
NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter)Pathogenic
GNPTG-mucolipidosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 110
NM_032520.5(GNPTG):c.233+1G>APathogenic
GNPTG-mucolipidosis|not provided
β˜…β˜…β˜†β˜†2025
NM_032520.5(GNPTG):c.271C>T (p.Gln91Ter)Pathogenic
not provided|GNPTG-mucolipidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 91
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter)Pathogenic
GNPTG-mucolipidosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 10
NM_032520.5(GNPTG):c.108del (p.Phe36fs)Pathogenic
not provided|GNPTG-mucolipidosis
β˜…β˜…β˜†β˜†2025β†’ Residue 36
NM_032520.5(GNPTG):c.610-2A>GPathogenic
GNPTG-mucolipidosis|not provided
β˜…β˜…β˜†β˜†2025
View on ClinVar β†—
Related Genes
FCSKShared pathway100%NAGPAProtein interaction99%GANABProtein interaction89%GNPTABProtein interaction64%RBKSShared pathway50%POMKShared pathway33%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
77%
Ovary
64%
Lung
59%
Brain
50%
Heart
44%
Gene Interaction Network
Click a node to explore
GNPTGFCSKNAGPAGANABGNPTABRBKSPOMK
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UJJ9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.37LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.07 [0.85–1.37]
RankingsWhere GNPTG stands among ~20K protein-coding genes
  • #8,944of 20,598
    Most Researched49
  • #499of 5,498
    Most Pathogenic Variants153 Β· top 10%
  • #14,273of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedGNPTG
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome.
PMID: 38898508
Genome Med Β· 2024
1.00
2
Identifying novel drug targets for calcific aortic valve disease through Mendelian randomization.
PMID: 39922081
Atherosclerosis Β· 2025
0.90
3
Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins.
PMID: 36074822
Science Β· 2022
0.80
4
Mucolipidosis type II and type III: a systematic review of 843 published cases.
PMID: 34172897
Genet Med Β· 2021
0.70
5
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
PMID: 19370764
Hum Mutat Β· 2009
0.60