GALT Chromosome 9
Galactose-1-phosphate uridylyltransferase
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What This Gene Does
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 Info
Gene Group
Histidine triad superfamily
Locus Type
gene with protein product
Location
9p13.3
Ensembl
ENSG00000213930
Associated Conditions (26)
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Galactosemia
GALT-related disorder
Premature ovarian failure
Gastric cancer
Acute myeloid leukemia
Uveal melanoma
Thyroid cancer
nonmedullary
1
Inborn genetic diseases
Colorectal cancer
Malignant tumor of esophagus
Cervical cancer
Familial cancer of breast
Sarcoma
Melanoma
Thymoma
Glioma susceptibility 1
Classical galactosemia
+6 more conditions
Key Variants
RS1034185619
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS1057523885
Conflicting classifications of pathogenicity
Health Risk
RS1057524572
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS111033645
Conflicting classifications of pathogenicity
Health Risk
RS111033663
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS111033665
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS111033682
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS111033686
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Galactosemia
Health Risk
RS111033692
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS111033711
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, GALT-related disorder, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
RS111033716
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
Health Risk
RS111033722
Conflicting classifications of pathogenicity
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
Health Risk
All Variants (296)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754419297 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS759270191 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Inborn genetic diseases, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS760189807 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS762136953 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Glioma susceptibility 1, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS763662108 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS780064274 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS781374930 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS794727699 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Inborn genetic diseases |
| RS794727838 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS796051967 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS886042064 | Health Risk | Conflicting classifications of pathogenicity | Galactosemia, Galactosemia |
| RS886042066 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS886042405 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS886043390 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS886063884 | Health Risk | Conflicting classifications of pathogenicity | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033640 | Health Risk | Conflicting classifications of pathogenicity; other | Classical galactosemia, homozygous Duarte-type, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS2070074 | Health Risk | Conflicting classifications of pathogenicity; other | GALT POLYMORPHISM (DUARTE, D2), Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1057517415 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033636 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033643 | Health Risk | Likely pathogenic | Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia |
| RS111033666 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033669 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, GALT-related disorder, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033688 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033708 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033721 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033723 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033725 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia |
| RS111033731 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033740 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033749 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033752 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033783 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033811 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033822 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033832 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033848 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS111033849 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1473851511 | Health Risk | Likely pathogenic | Galactosemia, Galactosemia |
| RS1554709110 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1554709139 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1554709146 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1554709148 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1554709151 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1554709280 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1554709342 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1554709359 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, GALT-related disorder, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1554709447 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1554709502 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1554709516 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |
| RS1564100957 | Health Risk | Likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase |