GNPTG

N-acetylglucosamine-1-phosphate transferase subunit gamma

2 disorders 1 susceptibility 1 causative 16p13.3 gene with protein product

HGNC:23026 Monarch NCBI Gene 84572 ENSG00000090581 UniProt Q9UJJ9 OMIM 607838

Previous symbols: GNPTAG, C16orf27. Aliases: CAB56184, c316G12.3.

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
Developmental Stuttering	susceptibility
GNPTG-Mucolipidosis	causative germline	mechanism: GlcNAc-1-Phosphotransferase Gamma-Subunit Deficiency and M6P Targeting Failure animal model: Gnptg-null mouse, Hamburg line (Gnptg ko); Gnptg-null mouse, Lexicon line (Gnptg tm1Lex)

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
GNPTG-mucolipidosis MONDO:0009652	AR	Definitive 2022-12-28	GNPTG-Mucolipidosis causative

Mechanism modules · computed from kb/

lysosomal_substrate_accumulation via GNPTG-Mucolipidosis

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