Polyphosphoinositide phosphatase also known as phosphatidylinositol 3,5-bisphosphate 5-phosphatase or SAC domain-containing protein 3 (Sac3) is an enzyme that in humans is …

Mar 30, 2025 · FIG4 (FIG4 Phosphoinositide 5-Phosphatase) is a Protein Coding gene. Diseases associated with FIG4 include Polymicrogyria, Bilateral Temporooccipital and Yunis-Varon …

In this review, we discuss the biology of FIG4 and describe how the deficiency of FIG4 results in lysosomal phenotypes. We also discuss the implications of FIG4/PI (3,5)P 2 signaling in …

This study extends the phenotypic spectrum of FIG4-related disease to Parkinsonism as a feature and demonstrates new phenotypes on a continuum between CMT4J and Yunis Varón syndrome.

Feb 9, 2023 · HGNC Approved Gene Symbol: FIG4. The content of phosphatidylinositol 3,5-bisphosphate (PtdIns (3,5)P2) in endosomal membranes changes dynamically with fission and …

FIG4 is an ALS risk gene in a central European cohort. These results suggest that FIG4 binds to hepatitis C virus and modulates particle formation in a cholesteryl ester-related manner.

Jan 4, 2025 · FIG4 is a hepatitis C virus particle-bound protein implicated in virion morphogenesis and infectivity with cholesteryl ester modulation potential. FIG4 variants in central European …

Nov 14, 2022 · A crucial role of FIG4 in increasing PIKfyve activity was identified by its ability to dephosphorylate an inhibitory autophosphorylation site in the activation loop of the kinase …

Jul 7, 2018 · Mutations of human FIG4 cause inherited disorders including Charcot-Marie-Tooth disease type 4J, polymicrogyria with epilepsy, and Yunis-Varón syndrome. Constitutive …

Mutations of the lipid phosphatase FIG4 that regulates PI (3,5)P 2 are responsible for the recessive peripheral-nerve disorder CMT4J. We now describe nonsynonymous variants of …