Gene: FUS

Alternate names for this Gene: ALS6|ETM4|FUS1|HNRNPP2|POMP75|TLS

Gene Summary: This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: FUS RNA binding protein

Type of Gene: protein-coding

rs121909668 in FUS gene and AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder) PMID 20668259 2010 Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia.

PMID 27604643 2016 Screening of SOD1, FUS and TARDBP genes in patients with amyotrophic lateral sclerosis in central-southern China.

PMID 24908169 2014 Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.

PMID 25324524 2014 Activity-dependent FUS dysregulation disrupts synaptic homeostasis.

PMID 22055719 2012 FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.

PMID 20577002 2010 SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

PMID 20606625 2010 ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import.

PMID 20124201 2010 Genetic contribution of FUS to frontotemporal lobar degeneration.

PMID 24204307 2013 ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation.

PMID 19861302 2010 Mutations of FUS gene in sporadic amyotrophic lateral sclerosis.

PMID 19251627 2009 Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

PMID 23577159 2013 Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.

PMID 19251628 2009 Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

rs1161032867 in FUS gene and Movement Disorders PMID 20385912 2010 Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

PMID 19251627 2009 Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

PMID 26362943 2015 De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.

PMID 23474818 2013 ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.

PMID 22863194 2012 Exome sequencing identifies FUS mutations as a cause of essential tremor.

PMID 24280224 2014 Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis.

PMID 20577002 2010 SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

rs121909668 in FUS gene and TREMOR, HEREDITARY ESSENTIAL, 4 PMID 23577159 2013 Characterization of FUS mutations in amyotrophic lateral sclerosis using RNA-Seq.

PMID 24204307 2013 ALS-associated FUS mutations result in compromised FUS alternative splicing and autoregulation.

PMID 20606625 2010 ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import.

PMID 25324524 2014 Activity-dependent FUS dysregulation disrupts synaptic homeostasis.

PMID 22055719 2012 FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.

PMID 20577002 2010 SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

PMID 24908169 2014 Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis.

PMID 19251627 2009 Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

PMID 20668259 2010 Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia.

PMID 22863194 2012 Exome sequencing identifies FUS mutations as a cause of essential tremor.