GALT

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

Plays an important role in galactose metabolism.

Galactose catabolic process Source: Reactome
Galactose catabolic process via UDP-galactose Source: GO_Central
Galactose metabolic process Source: UniProtKB
UDP-glucose catabolic process Source: Ensembl
UDP-glucose metabolic process Source: UniProtKB

Cytosol; Golgi apparatus; Cytoplasm

Galactosemia 1 (GALAC1):
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. GALAC1 inheritance is autosomal recessive.