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FIG4 phosphoinositide 5-phosphatase (FIG4)
- Target
- FIG4
- Molecular classification
- Enzyme, Phosphatase, Phosphoinositide phosphatase
01
Overview
FIG4 is a phosphoinositide 5-phosphatase that regulates the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2). It removes the 5-phosphate from PI(3,5)P2 to generate PI(3)P and forms a complex with VAC14 and FAB1, which is crucial for lysosomal membrane homeostasis. Mutations in FIG4 are associated with Charcot-Marie-Tooth disease type 4J (CMT4J), Amyotrophic lateral sclerosis type 11 (ALS11), and Yunis-Varón syndrome (YVS).
- Other names
- ALS11CMT4JKIAA0274SAC3YVSdJ249I4.1BTOP7
02
Mechanism of action
Dephosphorylates PI(3,5)P2 to PI(3)P; mutations impact lysosomal function
03
Biological functions
Regulation of phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) levelsLysosomal membrane homeostasisRegulation of autophagyRegulation of endolysosomal trafficking
04
Disease associations
Charcot-Marie-Tooth disease type 4J (CMT4J)Amyotrophic lateral sclerosis type 11 (ALS11)Yunis-Varón syndrome (YVS)Neurodegenerative disease
05
Safety considerations
Defects in endolysosomal trafficking and autophagy pathways
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