HGSNAT

Chr 8AR

heparan-alpha-glucosaminide N-acetyltransferase

Also known as: HGNAT, MPS3C, RP73, TMEM76

NCBI Gene: 138050 ENSG00000165102 UniProt: Q68CP4 OMIM: 610453

This protein functions as a lysosomal acetyltransferase essential for heparan sulfate degradation. Mutations cause mucopolysaccharidosis type IIIC (Sanfilippo syndrome C), a lysosomal storage disorder resulting from impaired heparan sulfate breakdown, and retinitis pigmentosa 73, both inherited in an autosomal recessive pattern. The pathogenic mechanism involves deficient enzymatic activity leading to toxic accumulation of undegraded heparan sulfate in lysosomes.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mucopolysaccharidosis type IIIC (Sanfilippo C)MIM #252930

Retinitis pigmentosa 73MIM #616544

Clinical highlights

Gene-disease validity (ClinGen)

inherited retinal dystrophy · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

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

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P/LP missense

0.73

LOEUF

LOF

Mechanism· G2P