NAGLU

Chr 17ADAR

N-acetyl-alpha-glucosaminidase

Also known as: CMT2V, MPS-IIIB, MPS3B, NAG, UFHSD

NCBI Gene: 4669ENSG00000108784UniProt: P54802OMIM: 609701

This gene encodes alpha-N-acetylglucosaminidase, a lysosomal enzyme that degrades heparan sulfate by cleaving terminal N-acetyl-D-glucosamine residues. Mutations cause mucopolysaccharidosis type IIIB (Sanfilippo syndrome B) through autosomal recessive inheritance, leading to lysosomal accumulation and urinary excretion of heparan sulfate. Some mutations may also cause autosomal dominant Charcot-Marie-Tooth disease type 2V.

GeneReviewsOMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismAD/ARLOEUF 0.902 OMIM phenotypes
Clinical Summary— NAGLU
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Gene-Disease Validity (ClinGen)
mucopolysaccharidosis type 3B · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →
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GeneReview available — NAGLU
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.90LOEUF
pLI 0.000
Z-score 1.96
OE 0.60 (0.41–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.99Z-score
OE missense 0.85 (0.78–0.94)
313 obs / 366.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.60 (0.41–0.90)
0≤0.351.4
Missense OE0.85 (0.78–0.94)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 17 / 28.2Missense obs/exp: 313 / 366.2Syn Z: -0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NAGLU · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F et al.·Int J Mol Sci
2023Review
Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
Li J et al.·BMC Med Genet
2018Case report
Transcriptomic signatures in peripheral CD4(+)T-lymphocytes may reflect melanoma staging and immunotherapy responsiveness prior to ICI initiation.
Palli E et al.·Front Immunol
2025
Early-onset motor polyneuropathy associated with a novel dominant NAGLU mutation.
Lopergolo D et al.·Neurol Sci
2023Case report
Cell-Mediated Immunity to NAGLU Transgene Following Intracerebral Gene Therapy in Children With Mucopolysaccharidosis Type IIIB Syndrome.
Gougeon ML et al.·Front Immunol
2021
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Evaluation of GlcNAc-Configured Glycomimetics as Pharmacological Chaperones of NAGLU for the Treatment of Mucopolysaccharidosis IIIB.
Ballout N et al.·Biomolecules
2026
A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib.
Vahedi-Larijani L et al.·Iran J Pathol
2026Open Access
Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD.
Moeinifar N et al.·Mol Biol Rep
2025
Generation of an induced pluripotent stem cell line (TRNDi042-A) from a Mucopolysaccharidosis type IIIB patient with homozygous p. R626X (c. 1876C > T) mutation in the NAGLU gene.
Rodriguez-Lopez A et al.·Stem Cell Res
2024Open Access
Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants.
Kaymakcalan Celebiler H et al.·Mol Syndromol
2025
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients