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 encoded by the FIG4 gene. [5] Fig4 is an abbreviation for Factor-Induced Gene. [6]

Mar 30, 2025 · FIG4 (FIG4 Phosphoinositide 5-Phosphatase) is a Protein Coding gene. Diseases associated with FIG4 include Polymicrogyria, Bilateral Temporooccipital and Yunis-Varon Syndrome. Among its related pathways are PI Metabolism and Metabolism.

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 understanding other lysosomal storage diseases, neuropathies, and …

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 fusion events that generate or absorb intracellular transport vesicles.

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 patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.

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 domain of...

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 Fig4−/− mice exhibit intention tremor, spongiform degeneration of neural tissue, hypomyelination, and juvenile lethality.

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 FIG4 in 2% (9/473) of patients with amyotrophic lateral sclerosis (ALS) and primary lateral sclerosis (PLS).