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: 2582
MIM: 606953
HGNC: 4116
Ensembl: ENSG00000117308
Variants:
dbSNP: 2582
ClinVar: 2582
TCGA: ENSG00000117308
COSMIC: GALE
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36395340 | 2023 | Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis. | 4 |
| 36846897 | 2023 | GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction. | 2 |
| 36395340 | 2023 | Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis. | 4 |
| 36846897 | 2023 | GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction. | 2 |
| 34159722 | 2021 | Expansion of the clinical phenotype of GALE deficiency. | 6 |
| 34159722 | 2021 | Expansion of the clinical phenotype of GALE deficiency. | 6 |
| 31819007 | 2020 | Human UDP-galactose 4'-epimerase (GALE) is required for cell-surface glycome structure and function. | 11 |
| 31819007 | 2020 | Human UDP-galactose 4'-epimerase (GALE) is required for cell-surface glycome structure and function. | 11 |
| 30247636 | 2019 | Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE). | 21 |
| 31827638 | 2019 | Overexpression of UDP-Glucose 4-Epimerase Is Associated with Differentiation Grade of Gastric Cancer. | 1 |
| 30247636 | 2019 | Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE). | 21 |
| 31827638 | 2019 | Overexpression of UDP-Glucose 4-Epimerase Is Associated with Differentiation Grade of Gastric Cancer. | 1 |
| 26565537 | 2016 | A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype. | 1 |
| 26565537 | 2016 | A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype. | 1 |
| 26162744 | 2015 | UDP-hexose 4-epimerases: a view on structure, mechanism and substrate specificity. | 21 |
Citation
Dessen P
GALE (UDP-galactose-4-epimerase)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/40683/gale
