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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NAGPA
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Chromosome 16 · 16p13.3
NCBI Gene: 51172Ensembl: ENSG00000103174.14HGNC: HGNC:17378UniProt: Q9UK23
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsecretion of lysosomal enzymesprotein targeting to lysosomelysosome organizationAlzheimer diseaselysosomal storage diseaseneurodegenerative diseasemultiple sclerosis
✦AI Summary

NAGPA (N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase), also known as the 'uncovering enzyme,' catalyzes the critical second step in mannose-6-phosphate (M6P) targeting signal formation on lysosomal enzymes by removing N-acetylglucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose intermediates 1. This enzymatic activity is essential for proper trafficking of over 60 soluble lysosomal hydrolases to their destination compartments 2. NAGPA mutations reduce cellular enzyme activity by approximately 50% and impair intracellular processing and trafficking, leading to reduced protein half-life 3. Functionally, NAGPA is central to the lysosomal enzyme-targeting pathway alongside GNPTAB and GNPTG 4. Clinically, NAGPA mutations have been associated with persistent developmental stuttering in multiple populations 45, with evidence suggesting these mutations may also contribute to dyslexia 5. Notably, individuals carrying NAGPA mutations show reduced responsiveness to stuttering therapy compared to non-carriers 6. While NAGPA mutations themselves do not cause severe lysosomal storage disorders like mucolipidosis, their role in speech disorders suggests that partial deficits in M6P pathway function can produce specific neurological effects 3. The crystal structure reveals a globular catalytic domain with a flexible C-terminal stem extending from the Golgi membrane 1.

Sources cited
1
NAGPA mutations identified in stuttering patients; part of lysosomal enzyme-targeting pathway genes associated with nonsyndromic stuttering
PMID: 20147709
2
NAGPA mutations linked to stuttering through lysosomal enzyme-targeting pathway involvement in speech disorder genetics
PMID: 21663442
3
NAGPA SNP rs882294 shows significant association with developmental dyslexia in Chinese population
PMID: 25643770
4
NAGPA mutation carriers show significantly less improvement in PSI scores following stuttering therapy
PMID: 31003007
5
NAGPA mutations reduce cellular enzyme activity by half and impair intracellular processing and trafficking; biochemical characterization of stuttering mutations
PMID: 22884963
6
NAGPA catalyzes second step in M6P tag formation by removing masking GlcNAc; crystal structure reveals catalytic domain with propeptide binding groove and flexible C-terminal stem
PMID: 32109365
7
NAGPA (uncovering enzyme) essential component of mannose-6-phosphate pathway for delivery of 60+ soluble lysosomal hydrolases to endosomal/lysosomal compartments
PMID: 36633450
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.46Moderate
lysosomal storage diseaseOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
multiple sclerosisOpen Targets
0.46Moderate
Parkinson diseaseOpen Targets
0.46Moderate
vasculitisOpen Targets
0.33Weak
mucocutaneous lymph node syndromeOpen Targets
0.33Weak
stuttering, familial persistent, 2Open Targets
0.14Weak
FRAXF syndromeOpen Targets
0.05Suggestive
chronic laryngitisOpen Targets
0.05Suggestive
mosaic variegated aneuploidy syndrome 4Open Targets
0.04Suggestive
alcohol drinkingOpen Targets
0.03Suggestive
acute tonsillitisOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
rhabdomyolysisOpen Targets
0.02Suggestive
Peyronie diseaseOpen Targets
0.02Suggestive
liver diseaseOpen Targets
0.02Suggestive
systemic inflammatory response syndromeOpen Targets
0.02Suggestive
secondary malignant neoplasmOpen Targets
0.02Suggestive
pathological myopiaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GNPTABProtein interaction100%GNPTGProtein interaction99%MANBAShared pathway33%PHKA2Shared pathway33%GAAShared pathway29%IDNKShared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
79%
Lung
61%
Ovary
49%
Brain
42%
Heart
38%
Gene Interaction Network
Click a node to explore
NAGPAGNPTABGNPTGMANBAPHKA2GAAIDNK
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9UK23
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.49LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.20 [0.97–1.49]
RankingsWhere NAGPA stands among ~20K protein-coding genes
  • #11,017of 20,598
    Most Researched35
  • #15,142of 17,882
    Most Constrained (LOEUF)1.49
Genes detectedNAGPA
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.
PMID: 20147709
N Engl J Med · 2010
1.00
2
Genetics of speech and language disorders.
PMID: 21663442
Annu Rev Genomics Hum Genet · 2011
0.90
3
Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population.
PMID: 25643770
BMC Genet · 2015
0.80
4
Genetic factors and therapy outcomes in persistent developmental stuttering.
PMID: 31003007
J Commun Disord · 2019
0.70
5
A role for inherited metabolic deficits in persistent developmental stuttering.
PMID: 22884963
Mol Genet Metab · 2012
0.60