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]

2024年12月25日 · 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.

fig4 磷酸肌醇 5-磷酸酶： 该基因编码的蛋白质属于含 sac 结构域的蛋白质基因家族。 sac 结构域长度约为 400 个氨基酸，由七个保守基序组成，已显示具有磷酸肌醇磷酸酶活性。

2023年2月9日 · 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. data identify a novel role of the ArPIKfyve-Sac3 complex in the mechanisms controlling aggregate formation of Sph1 and suggest that Sac3 protein deficiency or ...

Two null alleles of FIG4 cause Yunis Varón syndrome with severe central nervous system involvement, cleidocranial dysmorphism, absent thumbs and halluces and early death. Objectives: To analyse the phenotypic spectrum of FIG4-related disease and …

2025年1月4日 · 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 …

2017年1月4日 · Our study provides evidence for FIG4 as an ALS risk gene in a central European cohort, adds new variants to the mutational spectrum, links ALS to CMT4J on a genetic level, and describes a...

2022年11月14日 · 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...

FIG4的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为由该基因编码的蛋白质属于SAC结构域的蛋白基因家族。 在SAC结构域，在长度和组成的7个保守的基序大约400个氨基酸，已经显示出具有磷酸肌醇磷酸酶活性。 酵母同源物，Sac1p，参与多种磷酸肌醇的调节，并影响多种细胞功能，如肌动蛋白细胞骨架组织，高尔基功能，和液泡形态维护。 膜结合磷酸肌醇函数作为信号分子，并在真核细胞中发挥囊泡运输的关键作用。 该基因突变与腓骨肌 …