Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2592
MIM: 606999
HGNC: 4135
Ensembl: ENSG00000213930
Variants:
dbSNP: 2592
ClinVar: 2592
TCGA: ENSG00000213930
COSMIC: GALT
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36848716 | 2023 | Racial and ethnic diversity of classic and clinical variant galactosemia in the United States. | 1 |
| 38139222 | 2023 | Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review. | 1 |
| 36848716 | 2023 | Racial and ethnic diversity of classic and clinical variant galactosemia in the United States. | 1 |
| 38139222 | 2023 | Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review. | 1 |
| 36093991 | 2022 | A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT. | 2 |
| 36093991 | 2022 | A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT. | 2 |
| 34641485 | 2021 | Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions. | 3 |
| 34641485 | 2021 | Analysis of the Structure-Function-Dynamics Relationships of GALT Enzyme and of Its Pathogenic Mutant p.Q188R: A Molecular Dynamics Simulation Study in Different Experimental Conditions. | 3 |
| 31774565 | 2020 | Galactose 1-phosphate accumulates to high levels in galactose-treated cells due to low GALT activity and absence of product inhibition of GALK. | 3 |
| 32748411 | 2020 | A founder noncoding GALT variant interfering with splicing causes galactosemia. | 1 |
| 31774565 | 2020 | Galactose 1-phosphate accumulates to high levels in galactose-treated cells due to low GALT activity and absence of product inhibition of GALK. | 3 |
| 32748411 | 2020 | A founder noncoding GALT variant interfering with splicing causes galactosemia. | 1 |
| 31194682 | 2019 | Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey. | 1 |
| 31194895 | 2019 | Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants. | 2 |
| 31194682 | 2019 | Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey. | 1 |
Citation
Dessen P
GALT (galactose-1-phosphate uridylyltransferase)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45878/galt
