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