| Entrez gene ID | | 2592 |
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| Official gene symbol | | GALT |
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| Full name | | galactose-1-phosphate uridylyltransferase |
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| Aliases | | ,-, |
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| 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. [provided by RefSeq] |
|
| Location | | Chromosome: 9 Locus: 9p13 |
|
| Gene position | | 34646635 - 34650574 Map Viewer |
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| Gene orientation | | plus |
|
| Gene size | | 3940 bp |
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| Gene sequence |
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