GNPTG

Chr 16AR

N-acetylglucosamine-1-phosphate transferase subunit gamma

Also known as: C16orf27, GNPTAG, LP2537, RJD9

NCBI Gene: 84572 ENSG00000090581 UniProt: Q9UJJ9 OMIM: 607838

The gamma subunit of N-acetylglucosamine-1-phosphotransferase enhances mannose 6-phosphate marker formation on lysosomal enzymes, which is essential for proper targeting of these enzymes to lysosomes. Mutations cause mucolipidosis III gamma, an autosomal recessive lysosomal storage disorder. This gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with its recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mucolipidosis III gammaMIM #252605

UniProtMucolipidosis type III complementation group C

Clinical highlights

Gene-disease validity (ClinGen)

GNPTG-mucolipidosis · 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

1.22

LOEUF

LOF

Mechanism· G2P

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GeneReview available — GNPTG