PGM3

Chr 6

phosphoglucomutase 3

Also known as: AGM1, IMD23, PAGM, PGM 3

NCBI Gene: 5238 ENSG00000013375 UniProt: O95394

The protein catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during synthesis of UDP-GlcNAc, a sugar nucleotide critical for multiple glycosylation pathways including protein N- and O-glycosylation. Mutations cause immunodeficiency 23, an autosomal recessive disorder affecting immune system function. The gene shows low constraint against loss-of-function variants (pLI 0.000015, LOEUF 0.653).

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymorphism in this gene may play a role in resistance to diabetic nephropathy and neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 23

Clinical highlights

Gene-disease validity (ClinGen)

immunodeficiency 23 · 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

0.65

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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