GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneALS2
Other namesALSJ; PLSJ; IAHSP; ALS2CR6; FLJ31851; KIAA1563; MGC87187
Gene namealsin
Gene inheritance categoryFALS genes
CategoryREGENERATION, TROPHISM AND MOTONEURONAL DEATH
Chromosome2q33.2
Genomic CoordinatesChr2:202564986-202645895 ( -)
BackgroundCauses autosomal recessive juvenile ALS (ALS2).
ResultNo association with human ALS demonstrated/ replicated
Total Mutations27
Total Affected14
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
1401132120214

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ANIMAL MODELS

                               

KEY PUBLICATIONS (21)

First_AuthorYearTitlePaper
Al-Chalabi2003Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosisFull_Paper
Brugman2007Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 geneFull_Paper
Devon2003The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblingsFull_Paper
Eymard-Pierre2002Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin geneFull_Paper
Gros-Louis2003An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani KindredFull_Paper
Hadano2001A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2Full_Paper
Hadano2001The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosisFull_Paper
Hadano2007Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degenerationFull_Paper
Hand2002A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18qFull_Paper
Hand2003Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosisFull_Paper
Hentati1994Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33q35Full_Paper
Hosler1998Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33Full_Paper
Kress2005Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosisFull_Paper
Luigetti2013A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis Full_Paper
Nagano2003Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosisFull_Paper
Panzeri2006The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological functionFull_Paper
Sheerin2014ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystoniaFull_Paper
Shirakawa2009Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in JapanFull_Paper
Takahashi2008Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosisFull_Paper
Verschuuren-Bemelmans2008Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern EuropeFull_Paper
Yang2001The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosisFull_Paper