GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneTAF15
Other namesNpl3; RBP56; TAF2N; TAFII68; hTAFII68
Gene nameTAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa
Gene inheritanceFALS genes
Discovery methodCandidate gene
Category 
Chromosome17q11.1-q11.2
GRCh37 (hg19)Chr17:34136459-34174246 ( +)
GRCh38 (hg38)Chr17:35809455-35847242(+)
BackgroundGiven that the TET family proteins share structural homologies, and that FUS mutations underlie some cases of heritable ALS, we screened TAF15 and EWS in a cohort of FALS patients, in order to define their role in ALS pathogenesis.
ResultIdentified six novel changes in TAF15.
Mutations7
Patients4
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
4004030504

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KEY PUBLICATIONS (1)

First_AuthorYearTitlePaper
Ticozzi2011Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosisFull_Paper