Application | Comment | Organism |
---|---|---|
medicine | lysosomal galactocerebrosidase GALC, which is defective in globoid cell leukodystrophy, is involved in the maintenance of a functional hematopoietic stem/progenitor cell niche by contributing to the control of the intracellular content of key sphingolipids. Both insufficient and supraphysiologic GALC activity by inherited genetic deficiency or forced gene expression in patients' cells and in the disease model induce alterations of the intracellular content of the bioactive GALC downstream products ceramide and sphingosine, and thus affect hematopoietic stem/progenitor cell survival and function and the functionality of the stem cell niche | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Mus musculus | 5764 | - |
lysosome | - |
Homo sapiens | 5764 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Mus musculus | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
hematopoietic stem cell | - |
Mus musculus | - |
hematopoietic stem cell | - |
Homo sapiens | - |
U-937 cell | - |
Homo sapiens | - |
General Information | Comment | Organism |
---|---|---|
physiological function | lysosomal galactocerebrosidase GALC is involved in the maintenance of a functional hematopoietic stem/progenitor cell niche by contributing to the control of the intracellular content of key sphingolipids. Both insufficient and supraphysiologic GALC activity by inherited genetic deficiency or forced gene expression induce alterations of the intracellular content of the bioactive GALC downstream products ceramide and sphingosine, and thus affect hematopoietic stem/progenitor cell survival and function and the functionality of the stem cell niche | Mus musculus |
physiological function | lysosomal galactocerebrosidase GALC, which is defective in globoid cell leukodystrophy, is involved in the maintenance of a functional hematopoietic stem/progenitor cell niche by contributing to the control of the intracellular content of key sphingolipids. Both insufficient and supraphysiologic GALC activity by inherited genetic deficiency or forced gene expression in patients' cells and in the disease model induce alterations of the intracellular content of the bioactive GALC downstream products ceramide and sphingosine, and thus affect hematopoietic stem/progenitor cell survival and function and the functionality of the stem cell niche | Homo sapiens |