Protein Name galactose-1-phosphate uridylyltransferase
Organism Homo sapiens
Gene ID 2592
Gene Symbol


UniProt P07902 (GALT_HUMAN), A0A0S2Z3Y7 (A0A0S2Z3Y7_HUMAN), B2RAT6 (B2RAT6_HUMAN)
Relationships Total Number of functionally related compound(s) : 103
Total Number of Articles : 176

galactose-1-phosphate uridylyltransferase

Gene Summary

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]

  • galactose-1-phosphate uridylyltransferase
  • UDP-glucose--hexose-1-phosphate uridylyltransferase
  • gal-1-P uridylyltransferase
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