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NAGLU N-acetyl-alpha-glucosaminidase [ Homo sapiens (human) ]

Gene ID: 4669, updated on 4-Feb-2026
Official Symbol
NAGLUprovided by HGNC
Official Full Name
N-acetyl-alpha-glucosaminidaseprovided by HGNC
Primary source
HGNC:HGNC:7632
See related
Ensembl:ENSG00000108784 MIM:609701; AllianceGenome:HGNC:7632
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NAG; CMT2V; MPS3B; UFHSD; MPS-IIIB
Summary
This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 14.8), fat (RPKM 12.3) and 25 other tissues See more
Orthologs
all
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Try the new Transcripts and proteins table
See NAGLU in Genome Data Viewer
Location:
17q21.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42536241..42544449)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43393428..43401636)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40688259..40696467)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATPase H+ transporting V0 subunit a1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:40668625-40669124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8531 Neighboring gene microRNA 5010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8532 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12203 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8533 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40688565-40689302 Neighboring gene PTP4A2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12205 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1 pseudogene 1 Neighboring gene HSD17B1 promoter Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:40706585-40707152 Neighboring gene HSD17B1 antisense RNA 1 Neighboring gene hydroxysteroid 17-beta dehydrogenase 1

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Expression and characterization of human recombinant and alpha-N-acetylglucosaminidase. Weber B, et al. Protein Expr Purif, 2001 Mar. PMID 11237686
  2. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. Tétreault M, et al. Brain, 2015 Jun. PMID 25818867, Free PMC Article
  3. "Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline. Shi L, et al. BMC Med Genomics, 2014 Dec 3. PMID 25466957, Free PMC Article
  4. Plasma N-acetyl-glucosaminidase in advanced gastro-intestinal adenocarcinoma correlates with age, stage and outcome. Hartmann D, et al. Future Oncol, 2015. PMID 25040106
  5. Urinary N-acetyl-β-D glucosaminidase as a surrogate marker for renal function in autosomal dominant polycystic kidney disease: 1 year prospective cohort study. Park HC, et al. BMC Nephrol, 2012 Aug 30. PMID 22935351, Free PMC Article

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Variations of urinary N-acetyl-beta-D-glucosaminidase levels and its performance in detecting acute kidney injury under different thyroid hormones levels: a prospectively recruited, observational study.
    Title: Variations of urinary N-acetyl-β-D-glucosaminidase levels and its performance in detecting acute kidney injury under different thyroid hormones levels: a prospectively recruited, observational study.
  2. Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome.
    Title: Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome.
  3. Structural characterization of the NAGLU, a key enzyme in the pathogenesis of Sanfilippo syndrome B, has been reported.
    Title: Structural characterization of the α-N-acetylglucosaminidase, a key enzyme in the pathogenesis of Sanfilippo syndrome B.
  4. we identified and characterised oncogenic fusion genes and their function in CRC, and implicated NAGLU-IKZF3 and RNF121-FOLR2 as novel molecular targets for personalised medicine development.
    Title: Integrative analysis of oncogenic fusion genes and their functional impact in colorectal cancer.
  5. Data reported the pathogenic missense mutations of NAGLU and CYP26B1 concurrent in one patient, which not only expands the phenotype and genotype spectra of NAGLU and CYP26B1, but more importantly indicates the possibility of simultaneous occurrence of two rare diseases in one patient.
    Title: Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
  6. findings show that the NAGLU protein consists of a precursor and a mature form and that in slowly progressing mucopolysaccharidosis type IIIB patients' fibroblasts only the precursor protein is present at 37 degrees ; culturing at lower temperatures resulted in the formation of the mature, enzymatically active form, due to higher mRNA levels and improved processing
    Title: Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.
  7. CSF enzyme activity levels for either SGSH (in MPS IIIA subjects) or NAGLU (in MPS IIIB) significantly differed from normal controls. Several other behavioral or functional measures were found to be uninformative in this population, including timed functional motor tests.
    Title: A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.
  8. Mutation in NAGLU gene is associated with atypical mucopolysaccharidosis IIIB.
    Title: Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.
  9. in the current meta-analysis, based on ten prospective studies involving 29366 participants, we evaluated the role of urinary tubular injury markers (NGAL, KIM-1 and NAG) in predicting clinical outcomes including CKD stage 3, end stage renal disease and mortality.
    Title: Are Urinary Tubular Injury Markers Useful in Chronic Kidney Disease? A Systematic Review and Meta Analysis.
  10. Mutations in NAGLU gene is associated with idiopathic progressive cognitive decline.
    Title: "Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-N-acetylglucosaminidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables alpha-N-acetylglucosaminidase activity IEA
Inferred from Electronic Annotation
more info
  
enables alpha-N-acetylglucosaminidase activity TAS
Traceable Author Statement
more info
 PubMed 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity, acting on glycosyl bonds IEA
Inferred from Electronic Annotation
more info
  
enables iron ion sequestering activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in carbohydrate derivative metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in heparan sulfate proteoglycan catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in heparan sulfate proteoglycan catabolic process TAS
Traceable Author Statement
more info
  
involved_in heparin proteoglycan metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in system development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in extracellular exosome IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in lysosomal lumen IEA
Inferred from Electronic Annotation
more info
  
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  
located_in lysosome IEA
Inferred from Electronic Annotation
more info
  
located_in lysosome TAS
Traceable Author Statement
more info
 PubMed 
is_active_in vacuole IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in vacuole IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
alpha-N-acetylglucosaminidase
Names
N-acetylglucosaminidase, alpha
testicular tissue protein Li 18
NP_000254.2
XP_016880176.1
XP_024306539.1
XP_047292094.1
XP_047292095.1
XP_054172223.1
XP_054172224.1
XP_054172225.1
XP_054172226.1

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011552.1 RefSeqGene

    Range
    5309..13517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000263.4 → NP_000254.2  alpha-N-acetylglucosaminidase precursor

    See identical proteins and their annotated locations for NP_000254.2

    Status: REVIEWED

    Source sequence(s)
    AI299657, BF435029, BQ012843, U40846
    Consensus CDS
    CCDS11427.1
    UniProtKB/Swiss-Prot
    P54802
    UniProtKB/TrEMBL
    A0A140VJE4, Q14769
    Related
    ENSP00000225927.1, ENST00000225927.7
    Conserved Domains (3) summary
    pfam05089
    Location:130 → 465
    NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain
    pfam12971
    Location:42 → 116
    NAGLU_N; Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain
    pfam12972
    Location:474 → 729
    NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42536241..42544449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450771.2 → XP_024306539.1  alpha-N-acetylglucosaminidase isoform X1

    UniProtKB/TrEMBL
    Q14769
    Related
    ENSP00000574980.1, ENST00000904921.1
    Conserved Domains (3) summary
    pfam05089
    Location:149 → 484
    NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain
    pfam12971
    Location:42 → 115
    NAGLU_N; Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain
    pfam12972
    Location:493 → 747
    NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain

  2. XM_047436138.1 → XP_047292094.1  alpha-N-acetylglucosaminidase isoform X2

    UniProtKB/TrEMBL
    Q14769

  3. XM_017024687.2 → XP_016880176.1  alpha-N-acetylglucosaminidase isoform X3

    UniProtKB/TrEMBL
    Q59FD0
    Conserved Domains (2) summary
    pfam05089
    Location:2 → 188
    NAGLU; Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain
    pfam12972
    Location:197 → 452
    NAGLU_C; Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain

  4. XM_047436139.1 → XP_047292095.1  alpha-N-acetylglucosaminidase isoform X4

    UniProtKB/TrEMBL
    Q59FD0

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43393428..43401636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054316248.1 → XP_054172223.1  alpha-N-acetylglucosaminidase isoform X1

    UniProtKB/TrEMBL
    Q14769

  2. XM_054316249.1 → XP_054172224.1  alpha-N-acetylglucosaminidase isoform X2

    UniProtKB/TrEMBL
    Q14769

  3. XM_054316250.1 → XP_054172225.1  alpha-N-acetylglucosaminidase isoform X3

    UniProtKB/TrEMBL
    Q59FD0

  4. XM_054316251.1 → XP_054172226.1  alpha-N-acetylglucosaminidase isoform X4

    UniProtKB/TrEMBL
    Q59FD0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P54802.2 GenPept UniProtKB/Swiss-Prot:P54802

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