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Gene

NAGLU

N-acetyl-alpha-glucosaminidase

Summary

Cytogenetic location
17q21.2
Coordinates
Chromosome 17: 42,536,241–42,544,449 (GRCh38)
Exons
6 exons across 8.2 kb
Protein
743 amino acids
Inheritance
Autosomal recessive
Also known as
NAG
MANE Select transcript
ENST00000225927.7NM_000263.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Mucopolysaccharidosis Type III (Sanfilippo Syndrome)

    • Mucopolysaccharidosis type III (Sanfilippo syndrome types A, B, C and D)Autosomal recessive

      Deficiency of one of four enzymes that break down heparan sulfate (SGSH in type A, NAGLU in type B, HGSNAT in type C, GNS in type D) causes speech delay, hyperactivity, sleep problems and progressive loss of skills in childhood.

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong
      What knowing changes

      There is no approved disease-modifying therapy yet; a genetic diagnosis guides supportive care, family testing and eligibility for clinical trials.

Broader groupings

  • Charcot-Marie-Tooth Disease

    • One of 62 genes linked to it

      A group of inherited peripheral neuropathies causing progressive weakness and wasting of the distal muscles and loss of sensation, mainly in the feet and hands.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Genetic counseling, subtype-specific monitoring, physical therapy, orthotics, neurotoxic drug avoidance, gene-specific clinical trials, surveillance for associated features

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How NAGLU is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where NAGLU sits. NAGLU and 44 genes near it on chromosome 17, from 42,040,345 to 43,040,344.Chromosome 1717q21.2p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.342.2 Mb42.4 Mb42.6 Mb42.8 Mb43 MbZNF385C: 42,025,576–42,098,479, reverse strandZNF385CC17orf113: 42,038,232–42,050,601, reverse strandC17orf113DHX58: 42,101,404–42,112,735, reverse strandKAT2A: 42,113,109–42,121,382, reverse strand: 42,119,674–42,154,916, reverse strandHSPB9: 42,122,804–42,123,352, forward strandHSPB9RAB5C: 42,124,976–42,155,044, reverse strandRAB5CKCNH4: 42,156,891–42,181,146, reverse strandKCNH4HCRT: 42,184,060–42,185,452, reverse strandHCRTGHDC: 42,188,799–42,194,513, reverse strandGHDCSTAT5B: 42,199,176–42,288,633, reverse strandSTAT5BSTAT5A: 42,287,547–42,311,943, forward strandSTAT5ASTAT3: 42,313,322–42,388,574, reverse strandSTAT3CAVIN1: 42,402,449–42,423,322, reverse strandCAVIN1ATP6V0A1: 42,458,823–42,522,582, forward strandATP6V0A1NAGLU: 42,536,241–42,544,449, forward strandNAGLUHSD17B1: 42,552,920–42,555,217, forward strandHSD17B1COASY: 42,561,467–42,566,277, forward strandCOASYMLX: 42,567,067–42,573,239, forward strandMLXPSMC3IP: 42,572,310–42,577,831, reverse strandRETREG3: 42,579,508–42,610,623, reverse strandTUBG1: 42,609,411–42,615,253, forward strandTUBG2: 42,659,223–42,667,007, forward strandTUBG2PLEKHH3: 42,667,914–42,677,064, reverse strandPLEKHH3CCR10: 42,678,889–42,683,917, reverse strandCCR10CNTNAP1: 42,682,368–42,699,993, forward strandCNTNAP1EZH1: 42,700,270–42,745,069, reverse strandEZH1RAMP2: 42,758,447–42,763,537, forward strandRAMP2VPS25: 42,773,439–42,779,600, forward strandVPS25WNK4: 42,780,593–42,797,066, forward strandWNK4COA3: 42,793,154–42,798,719, reverse strandCOA3CNTD1: 42,798,800–42,811,587, forward strandBECN1: 42,809,108–42,833,350, reverse strandBECN1PSME3: 42,824,385–42,843,760, forward strandAOC2: 42,844,574–42,850,707, forward strandAOC2AOC3: 42,851,130–42,858,130, forward strandAOC3G6PC1: 42,900,722–42,923,502, forward strandG6PC1AARSD1: 42,950,424–42,964,498, reverse strandAARSD1PTGES3L-AARSD1: 42,950,526–42,980,528, reverse strandPTGES3L-AARSD1PTGES3L: 42,968,035–42,980,502, reverse strandPTGES3LRUNDC1: 42,980,552–42,995,142, forward strandRUNDC1RPL27: 42,998,265–43,002,973, forward strandVAT1: 42,999,182–43,025,123, reverse strandIFI35: 43,006,740–43,014,638, forward strandRND2: 43,025,210–43,047,509, forward strandDiagram of NAGLU: 6 exons on the forward strand of chromosome 17Exon 1: 63 known disease-causing sitesExon 2: 28 known disease-causing sitesExon 3: 16 known disease-causing sitesExon 4: 10 known disease-causing sitesExon 5: 29 known disease-causing sitesExon 6: 104 known disease-causing sitesExon 1: 42,536,241–42,536,655, 415 basesExon 2: 42,537,398–42,537,545, 148 basesExon 3: 42,538,339–42,538,485, 147 basesExon 4: 42,538,670–42,538,755, 86 basesExon 5: 42,540,950–42,541,206, 257 basesExon 6: 42,543,028–42,544,449, 1,422 bases1234565′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.5 kb of the gene's 8.2 kb; 2,232 of those bases code for the protein.

How a genome test reads NAGLU

262

positions in NAGLU where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 8.2 kb of NAGLU, introns included, not only the 2.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). NAGLU gene: N-acetyl-alpha-glucosaminidase. Retrieved 17 October 2026, from https://dantelabs.com/genes/naglu

Vancouver

Dante Labs. NAGLU gene: N-acetyl-alpha-glucosaminidase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/naglu

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