NP_000146.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
galactose-1-phosphate uridylyltransferase isoform 1
NCBI Official Synonym Full Names
galactose-1-phosphate uridylyltransferase
NCBI Protein Information
galactose-1-phosphate uridylyltransferase
UniProt Protein Name
Galactose-1-phosphate uridylyltransferase
UniProt Synonym Protein Names
UDP-glucose--hexose-1-phosphate uridylyltransferase
UniProt Synonym Gene Names
NCBI Summary for 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]
UniProt Comments for GALT
GALT: Defects in GALT are the cause of galactosemia (GALCT). Galactosemia is an inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation. Belongs to the galactose-1-phosphate uridylyltransferase type 1 family.
Protein type: Carbohydrate Metabolism - amino sugar and nucleotide sugar; Carbohydrate Metabolism - galactose; EC 2.7.7.12; Motility/polarity/chemotaxis; Transferase
Chromosomal Location of Human Ortholog: 9p13.3
Cellular Component: cytosol; Golgi apparatus
Molecular Function: protein binding; UDP-glucose:hexose-1-phosphate uridylyltransferase activity
Biological Process: galactose catabolic process; galactose metabolic process
Disease: Galactosemia
Research Articles on GALT
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Pathways associated with GALT recombinant protein
Diseases associated with GALT recombinant protein
Organs/Tissues associated with GALT recombinant protein
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