Identity
HGNC
LOCATION
17q25.1
LOCUSID
ALIAS
GALK,GK1,HEL-S-19
FUSION GENES
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: 2584
MIM: 604313
HGNC: 4118
Ensembl: ENSG00000108479
Variants:
dbSNP: 2584
ClinVar: 2584
TCGA: ENSG00000108479
COSMIC: GALK1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37834386 | 2023 | Proteomics Profiling of Bladder Cancer Tissues from Early to Advanced Stages Reveals NNMT and GALK1 as Biomarkers for Early Detection and Prognosis of BCa. | 1 |
| 37834386 | 2023 | Proteomics Profiling of Bladder Cancer Tissues from Early to Advanced Stages Reveals NNMT and GALK1 as Biomarkers for Early Detection and Prognosis of BCa. | 1 |
| 32807972 | 2021 | Galactokinase deficiency: lessons from the GalNet registry. | 10 |
| 32807972 | 2021 | Galactokinase deficiency: lessons from the GalNet registry. | 10 |
| 29505688 | 2018 | Improving the Activity and Stability of Human Galactokinase for Therapeutic and Biotechnological Applications. | 2 |
| 29893426 | 2018 | Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2. | 12 |
| 30253338 | 2018 | Modulation of the mobility of a key region in human galactokinase: Impacts on catalysis and stability. | 0 |
| 29505688 | 2018 | Improving the Activity and Stability of Human Galactokinase for Therapeutic and Biotechnological Applications. | 2 |
| 29893426 | 2018 | Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2. | 12 |
| 30253338 | 2018 | Modulation of the mobility of a key region in human galactokinase: Impacts on catalysis and stability. | 0 |
| 28672748 | 2017 | Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases. | 1 |
| 28672748 | 2017 | Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases. | 1 |
| 24211322 | 2014 | Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings. | 4 |
| 24211322 | 2014 | Homozygosity mapping identifies a GALK1 mutation as the cause of autosomal recessive congenital cataracts in 4 adult siblings. | 4 |
| 23517731 | 2013 | Static and dynamic interactions between GALK enzyme and known inhibitors: guidelines to design new drugs for galactosemic patients. | 7 |
Citation
Dessen P
GALK1 (galactokinase 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63679/galk1-(galactokinase-1)
