GALT

GENE INFORMATION

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Gene name

GALT

Synonyms

Description

Galactose-1-phosphate uridylyltransferase (HGNC Symbol)

Entrez 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]

Chromosome

9

Cytoband

p13.3

Chromosome location (bp)

34638133 - 34651035

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000213930 (version 78.38)

Entrez gene

2592

UniProt

P07902 (UniProt - Evidence at protein level)

neXtProt

NX_P07902

Antibodypedia

GALT antibodies
 

PROTEIN VIEW

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GALT-002
 
GALT-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GALT-002 ENSP00000368119
ENST00000378842
P07902
Show all »
Show » Show » 379 43.4 No 0
GALT-201 ENSP00000401956
ENST00000450095
P07902
Show all »
Show » Show » 270 31.1 No 0