NAGLU

Chr 17ADAR

N-acetyl-alpha-glucosaminidase

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

NCBI Gene: 4669 ENSG00000108784 UniProt: P54802 OMIM: 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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Charcot-Marie-Tooth disease, axonal, type 2VMIM #616491

Mucopolysaccharidosis type IIIB (Sanfilippo B)MIM #252920

Clinical highlights

Gene-disease validity (ClinGen)

mucopolysaccharidosis type 3B · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.90

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — NAGLU