GALE
Function
Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6-phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP-GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids.
Involvement in disease
Galactosemia 3
GALAC3
A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC3 is an autosomal recessive form caused by galactose epimerase deficiency. It can manifest as benign, peripheral form with mild symptoms and enzymatic deficiency in circulating blood cells only. A second form, known as generalized epimerase deficiency, is characterized by undetectable levels of enzyme activity in all tissues and severe clinical features, including restricted growth and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Thrombocytopenia 13, syndromic
THC13
An autosomal recessive form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC13 patients have enlarged, gray platelets with defective function. Some affected individuals have leukopenia or anemia and pancytopenia. Additional variable features include mitral valve malformations, pyloric stenosis, and impaired intellectual development.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Carbohydrate metabolism; galactose metabolism.
Sequence Similarities
Belongs to the NAD(P)-dependent epimerase/dehydratase family.
Alternative names
UDP-glucose 4-epimerase, Galactowaldenase, UDP-N-acetylgalactosamine 4-epimerase, UDP-N-acetylglucosamine 4-epimerase, UDP-galactose 4-epimerase, UDP-GalNAc 4-epimerase, UDP-GlcNAc 4-epimerase, GALE