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Target intelligence / Profile preview
Dihydroceramide Desaturase (DES1)
- Target
- DES1
- Molecular classification
- Enzyme
01
Overview
Dihydroceramide desaturase (DES1) is a membrane-bound enzyme that catalyzes the introduction of a 4,5-trans double bond into dihydroceramide to produce ceramide. This reaction is a key step in the de novo biosynthesis pathway of sphingolipids. Ceramides are essential components of cell membranes and play critical roles in cellular signaling pathways related to cell growth, apoptosis, and stress responses. Loss-of-function mutations or reduced DEGS1 activity cause accumulation of toxic levels of dihydroceramides leading to pediatric neurodegenerative disorders.
- Other names
- Sphingolipid delta(4)-desaturasedihydroceramide desaturase 1DEGS1
02
Mechanism of action
Inhibition of dihydroceramide desaturase activity.
03
Biological functions
Ceramide biosynthesisRegulates membrane propertiesApoptosisAutophagyCell death
04
Disease associations
Neurodegenerative diseaseMetabolic disordersHypomyelinating leukodystrophy type 18
05
Safety considerations
Off-target effects of inhibitorsDevelopmental defects and early lethality (in knockout models)
06
Interacting drugs
GT11
2 more in the full profile.
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