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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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GALT
galactose-1-phosphate uridylyltransferase
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.
| Gene Name: | galactose-1-phosphate uridylyltransferase |
| Synonyms: | GALT, Gal-1-P uridylyltransferase |
| Target Sequences: | NM_000155 NP_000146.2 P07902 |
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