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: 2581
MIM: 606890
HGNC: 4115
Ensembl: ENSG00000054983
Variants:
dbSNP: 2581
ClinVar: 2581
TCGA: ENSG00000054983
COSMIC: GALC
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36370000 | 2023 | GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease. | 9 |
| 36920572 | 2023 | A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family. | 0 |
| 36370000 | 2023 | GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease. | 9 |
| 36920572 | 2023 | A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family. | 0 |
| 36113749 | 2022 | Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease. | 3 |
| 36113749 | 2022 | Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease. | 3 |
| 32186243 | 2021 | Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease. | 4 |
| 33190188 | 2021 | Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature. | 4 |
| 34021168 | 2021 | β-Galactosidase is a target enzyme for detecting peritoneal metastasis of gastric cancer. | 4 |
| 32186243 | 2021 | Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease. | 4 |
| 33190188 | 2021 | Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature. | 4 |
| 34021168 | 2021 | β-Galactosidase is a target enzyme for detecting peritoneal metastasis of gastric cancer. | 4 |
| 32304783 | 2020 | Allele frequency analysis of GALC gene causing Krabbe disease in human and its codon usage. | 1 |
| 32998995 | 2020 | β-Galactosylceramidase Promotes Melanoma Growth via Modulation of Ceramide Metabolism. | 6 |
| 33097716 | 2020 | Brainstem development requires galactosylceramidase and is critical for pathogenesis in a model of Krabbe disease. | 19 |
Citation
Dessen P
GALC (galactosylceramidase)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46350/galc
