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FIG4 gene

Known as: CMT4J, SAC DOMAIN-CONTAINING INOSITOL PHOSPHATASE 3, hSac3 
This gene plays a role in the metabolism of polyphosphoinositides.
National Institutes of Health

Related topics

Related topics

4 relations
DephosphorylationHydrolysisPhospholipid Metabolismpolyphosphoinositide phosphatase

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
Phosphatidylinositol 3,5-bisphosphate: low abundance, high significance.
Recent studies of the low abundant signaling lipid, phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2 ), reveal an intriguingly… Expand
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Highly Cited
2013
Highly Cited
2013
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe… Expand
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Highly Cited
2012
Highly Cited
2012
In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P.
Mutations that cause defects in levels of the signaling lipid phosphatidylinositol 3,5-bisphosphate [PI(3,5)P(2)] lead to… Expand
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Highly Cited
2011
Highly Cited
2011
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
Charcot-Marie-Tooth disease is a genetically heterogeneous group of motor and sensory neuropathies associated with mutations in… Expand
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Highly Cited
2009
Highly Cited
2009
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
Mutations of the lipid phosphatase FIG4 that regulates PI(3,5)P(2) are responsible for the recessive peripheral-nerve disorder… Expand
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Highly Cited
2008
Highly Cited
2008
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
Recessive Charcot-Marie-Tooth disease type-4J (CMT4J) and its animal model, the pale tremor mouse (plt), are caused by mutations… Expand
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Highly Cited
2007
Highly Cited
2007
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
Membrane-bound phosphoinositides are signalling molecules that have a key role in vesicle trafficking in eukaryotic cells… Expand
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Highly Cited
2004
Highly Cited
2004
Vacuole size control: regulation of PtdIns(3,5)P2 levels by the vacuole-associated Vac14-Fig4 complex, a PtdIns(3,5)P2-specific phosphatase.
In the budding yeast Saccharomyces cerevisiae, phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) is synthesized by a single… Expand
Is this relevant?
2004
2004
Partial characterization of the Nicotiana tabacum actin gene family: Evidence for pollen-specific expression of one of the gene family members
The actin gene family of Nicotiana tabacum has been partially characterised by Southern hybridisation and by isolating λEMBL4… Expand
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Highly Cited
2002
Highly Cited
2002
Regulation of Fab1 phosphatidylinositol 3-phosphate 5-kinase pathway by Vac7 protein and Fig4, a polyphosphoinositide phosphatase family member.
The Saccharomyces cerevisiae FAB1 gene encodes the sole phosphatidylinositol 3-phosphate [PtdIns(3)P] 5-kinase responsible for… Expand
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