NAGLU

N-acetyl-alpha-glucosaminidase

3 disorders 2 causative 1 no genetic record 17q21.2 gene with protein product

HGNC:7632 Monarch NCBI Gene 4669 ENSG00000108784 UniProt P54802 OMIM 609701

Aliases: NAG.

Normal function · from ai-gene-review (P54802, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Charcot-Marie-Tooth Disease Type 2	causative	subtype: CMT2V scoped to subtype: CMT2V
Mucopolysaccharidosis	causative germline	mechanism: Lysosomal GAG Accumulation
Sanfilippo syndrome	no genetic record	mechanism: Lysosomal heparan sulfate catabolism defect subtype: MPS IIIB

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
mucopolysaccharidosis type 3B MONDO:0009656	AR	Definitive 2022-08-22	Sanfilippo syndrome no genetic record

Mechanism modules · computed from kb/

mps_gag_storage via Mucopolysaccharidosis

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.