GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneAR
Other namesKD; AIS; TFM; DHTR; SBMA; NR3C4; SMAX1; HUMARA
Gene nameandrogen receptor
Gene inheritanceSALS genes
Discovery methodGWAS
CategoryOTHER PROCESSES
ChromosomeXq11.2
Genomic CoordinatesChrX:66763874-66950461 ( +)
BackgroundCauses Kennedy spinal and bulbar muscular atrophy.
ResultNo association with human ALS demonstrated/ replicated
Total Mutations0
Total Affected0

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (2)

First_AuthorYearTitlePaper
Garofalo1993Androgen receptor gene polymorphisms in amyotrophic lateral sclerosisFull_Paper
Parboosingh1997Spinobulbar muscular atrophy can mimic ALS: the importance of genetic testing in male patients with atypical ALSFull_Paper