UGP2

Chr 2

UDP-glucose pyrophosphorylase 2

Also known as: DEE83, EIEE83, SVUGP2, UDPG, UDPGP, UDPGP2, UGP1, UGPP1

NCBI Gene: 7360 ENSG00000169764 UniProt: Q16851

UTP-glucose-1-phosphate uridylyltransferase catalyzes the conversion of glucose-1-phosphate to UDP-glucose, a crucial precursor for glycogen synthesis in liver and muscle. Mutations cause developmental and epileptic encephalopathy 83, inherited in an autosomal recessive pattern. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern where heterozygous carriers are unaffected.

ResearchSummary from RefSeq, OMIM, UniProt

The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDevelopmental and epileptic encephalopathy 83

Clinical highlights

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

1.12

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429