Catalog No.
YHK82701
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Gly216-His665
Predicted molecular weight
54.14 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q92562
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
SAC domain-containing protein 3, KIAA0274, FIG4, Phosphatidylinositol 3,5-bisphosphate 5-phosphatase, SAC3, Polyphosphoinositide phosphatase
Genetic epidemiology of amyotrophic lateral sclerosis in Cyprus: a population-based study., PMID:39730482
Protein family FAM241 in human and mouse., PMID:39715844
FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature., PMID:39457468
Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J., PMID:39133880
Age-dependent functional development pattern in neonatal brain: An fMRI-based brain entropy study., PMID:38852805
FIG4-associated disease manifesting as rapidly progressive amyotrophic lateral sclerosis., PMID:38695966
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder., PMID:38334070
Clinical and genetic features of patients suffering from CMT4J., PMID:37950760
Investigating the Genetic Background of Spastic Syndrome in North American Holstein Cattle Based on Heritability, Genome-Wide Association, and Functional Genomic Analyses., PMID:37510383
The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants., PMID:37363915
Genetic characterization of primary lateral sclerosis., PMID:37133535
In Silico Exploration of Metabolically Active Peptides as Potential Therapeutic Agents against Amyotrophic Lateral Sclerosis., PMID:36982902
Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c., PMID:36691351
Better safe than sorry-Whole-genome sequencing indicates that missense variants are significant in susceptibility to COVID-19., PMID:36662838
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy., PMID:36529678
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland., PMID:36515702
Phosphatidylinositol (3,5)-bisphosphate machinery regulates neurite thickness through neuron-specific endosomal protein NSG1/NEEP21., PMID:36493904
Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice., PMID:36434903
PROK2, HRNR, and FIG4 as potential genetic biomarkers of high bleeding propensity in East Asian patients with acute coronary syndrome using ticagrelor., PMID:36263704
[Genetic distribution in Chinese patients with hereditary peripheral neuropathy]., PMID:36241230
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services., PMID:35803560
Roles of PIKfyve in multiple cellular pathways., PMID:35584589
Ribosomal targeting strategy and nuclear labeling to analyze photoreceptor phosphoinositide signatures., PMID:35427794
Clinical and Genetic Analysis of a Patient with CMT4J., PMID:35225887
Proximity Interactome Map of the Vac14-Fig4 Complex Using BioID., PMID:34554760
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease., PMID:34169998
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy., PMID:34130600
Adeno-associated virus gene therapy to the rescue for Charcot-Marie-Tooth disease type 4J., PMID:34060476
AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model., PMID:33878035
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients., PMID:33405357
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1., PMID:33168985
Insights into Lysosomal PI(3,5)P2 Homeostasis from a Structural-Biochemical Analysis of the PIKfyve Lipid Kinase Complex., PMID:33098764
CMT4J, parkinsonism and a new FIG4 mutation., PMID:33096303
Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings., PMID:33080143
A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease., PMID:33059769
Roles for a lipid phosphatase in the activation of its opposing lipid kinase., PMID:32583743
Phosphatidylinositol 3,5-bisphosphate regulates Ca2+ transport during yeast vacuolar fusion through the Ca2+ ATPase Pmc1., PMID:32388897
Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy., PMID:32385905
FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome., PMID:32268254
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content., PMID:32202298
Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes., PMID:32022442
Charcot-Marie-Tooth Disease Type 4J and Multiple Sclerosis., PMID:31743256
Identification of CR43467 encoding a long non-coding RNA as a novel genetic interactant with dFIG4, a CMT-causing gene., PMID:31704059
Phosphatidylinositol 3 monophosphate metabolizing enzymes in blood platelet production and in thrombosis., PMID:31604685
Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders., PMID:31591492
SNV discovery and functional candidate gene identification for milk composition based on whole genome resequencing of Holstein bulls with extremely high and low breeding values., PMID:31369641
Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J., PMID:31313076
CRISPR knockout screen implicates three genes in lysosome function., PMID:31270356
For research use only. Not for human or drug use.
