Recombinant Human Polyphosphoinositide phosphatase (FIG4), partial

1. A rare heterozygous FIG4 frameshift variant was identified in a German family. Sequence analysis of FIG4 in 200 ALS cases revealed five rare heterozygous FIG4 missense variants predicted to be deleterious. FIG4 is an ALS risk gene in a central European cohort. PMID: 28051077
2. These results suggest that FIG4 binds to hepatitis C virus and modulates particle formation in a cholesteryl ester-related manner. PMID: 26519381
3. 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 overproduction may facilitate aggregation of aggregation-prone proteins PMID: 26405034
4. The findings suggest that FIG4 may have a common role in the formation or degradation of neuronal cytoplasmic and nuclear inclusions in several neurodegenerative diseases. PMID: 23888880
5. FIG4 mutations were identified in autosomal-dominant Amyotrophic lateral sclerosis. PMID: 24085347
6. Phenotypes associated with FIG4 mutations include cortical malformation associated with seizures and psychiatric manifestations, in addition to the Charcot-Marie-Tooth disease type 4J and Yunis-Varon syndrome. PMID: 24598713
7. Identified novel biallelic FIG4 mutations. PMID: 24088667
8. Genetic variations in the FIG4 gene were not found to cause ALS in Italian patients. PMID: 23336365
9. results uncover an unexpected role for Sac3 phosphatase in triple-negative breast cancer cell proliferation PMID: 24070605
10. Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. PMID: 23623387
11. This study demonistrated that CMT4J is a clinically distinct form of Charcot-Marie-Tooth disease with mutations in the PI(3,5)P phosphatase FIG4. PMID: 21705420
12. a novel regulatory mechanism whereby ArPIKfyve enhances Sac3 abundance by attenuating Sac3 proteasome-dependent degradation and suggest that a failure of this mechanism could be the primary molecular defect in the pathogenesis of CMT4J. PMID: 20630877
13. We identified pathogenic mutations of human FIG4 (KIAA0274) on chromosome 6q21 in four unrelated patients with hereditary motor and sensory neuropathy. PMID: 17572665
14. The authors data indicate that the PAS complex is organized to provide optimal PIKfyve functionality and is maintained via ArPIKfyve homomeric and heteromeric interactions. PMID: 18950639
15. Heterozygosity for a deleterious allele of FIG4 appears to be a risk factor for ALS and PLS, extending the list of known ALS genes and increasing the clinical spectrum of FIG4-related diseases PMID: 19118816
16. PIKfyve-ArPIKfyve-Sac3 core complex: contact sites and their consequence for Sac3 phosphatase activity and endocytic membrane homeostasis PMID: 19840946

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HGNC: 16873

OMIM: 216340

KEGG: hsa:9896

STRING: 9606.ENSP00000230124

UniGene: Hs.529959