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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GALT-20-RE | 20 (40 μL) | 200 μL |  |
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| GALT-20-OR | 20 (40 μL) | 200 μL |  |
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| GALT-20-GO | 20 (40 μL) | 200 μL |  |
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| GALT-20-GR | 20 (40 μL) | 200 μL |  |
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| GALT-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : GALT
Gene Name : Galactose-1-phosphate uridylyltransferase
Chromosome : CHR 9: 346,465,88-346,505,97
Locus : 9p13.3
Alt. Genes : EBI3
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