Aliases for GALT Gene
External Ids for GALT Gene
Previous GeneCards Identifiers for GALT Gene
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
GeneCards Summary for GALT Gene
GALT (Galactose-1-Phosphate Uridylyltransferase) is a Protein Coding gene. Diseases associated with GALT include Galactosemia and Galactokinase Deficiency. Among its related pathways are Glycosaminoglycan metabolism and Amino sugar and nucleotide sugar metabolism. Gene Ontology (GO) annotations related to this gene include UDP-glucose:hexose-1-phosphate uridylyltransferase activity.
UniProtKB/Swiss-Prot Summary for GALT Gene
Plays an important role in galactose metabolism.