HGSNAT

heparan-alpha-glucosaminide N-acetyltransferase

2 disorders 1 causative 1 no genetic record 8p11.21-p11.1 gene with protein product

HGNC:26527 Monarch NCBI Gene 138050 ENSG00000165102 UniProt Q68CP4 OMIM 610453

Previous symbols: TMEM76. Aliases: FLJ32731, HGNAT.

Normal function · from ai-gene-review (Q68CP4, 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
Mucopolysaccharidosis	causative germline	mechanism: Lysosomal GAG Accumulation
Sanfilippo syndrome	no genetic record	mechanism: Lysosomal heparan sulfate catabolism defect subtype: MPS IIIC

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 3C MONDO:0009657	AR	Definitive 2023-12-04	Sanfilippo syndrome no genetic record
inherited retinal dystrophy MONDO:0019118	AR	Definitive 2024-04-04	Inherited Retinal Dystrophy not named

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.