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ALSoD is a joint project of World Federation of Neurology and European Network to Cure ALS. The work leading to these results has received funding from the European Community’s Health Seventh Framework Programme FP7/2007-2013 under grant agreement number 259867.
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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneFIG4
Other namesSAC3; ALS11; CMT4J; hSac3; KIAA0274; dJ249I4.1; RP1-249I4.1; FIG4
Gene nameSAC domain-containing protein gene family
Gene inheritance categoryFALS genes found in SALS
CategoryCELL DEATH
Chromosome6q21
Genomic CoordinatesChr6:110012424-110146634 ( +)
BackgroundBecause mutation of FIG4 affects motor-neuron function in humans and mice, we tested FIG4 as a candidate gene for ALS
ResultMutations of the lipid phosphatase FIG4 that regulates PI(3,5)P2 are responsible for the recessive peripheral-nerve disorder CMT4J
Total Mutations10
Total Affected9
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
3654540559

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KEY PUBLICATIONS (1)

First_AuthorYearTitlePaper
Chow2009Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALSFull_Paper
 
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