UGP2 Chromosome 2

UDP-glucose pyrophosphorylase 2

1 variant 1 Health Risk

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What This Gene Does

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]

Associated Conditions (3)

Developmental and epileptic encephalopathy

D-6618

Key Variants

RS768305634

Pathogenic/Likely pathogenic

Developmental and epileptic encephalopathy, 83, D-6618

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS768305634	Health Risk	Pathogenic/Likely pathogenic	Developmental and epileptic encephalopathy, 83, D-6618