GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GenePFN1
Other namesALS18
Gene nameprofilin 1
Gene inheritanceFALS genes
Discovery methodNGS
Category 
Chromosome17p13.3
GRCh37 (hg19)Chr17:4848945-4852381 ( -)
GRCh38 (hg38)Chr17:4945650-4949086(-)
BackgroundPFN1 is crucial for the conversion of monomeric (G)-actin to filamentous (F)-actin. Exome sequencing of two large ALS families showed different mutations within the PFN1 gene.
ResultCells expressing PFN1 mutants contain ubiquitinated, insoluble aggregates that in many cases contain the ALS-associated protein TDP-43. PFN1 mutants also display decreased bound actin levels and can inhibit axon outgrowth.
Mutations12
Patients12
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
542101085310

BIOINFORMATICS

Entrez Gene  UCSC Browser  Protein Structure  OMIM  Genecards  Full Literature  ProtScale  Sequence  Mutations  Uniprot
iHop  Pathway  GeneTest  ALS review  Mutation Google Map        Patients        Animal models
GeneMANIA  AmiGO  Gene Wiki  Wolfram Alpha  Ensembl  NCBI  WikiGenes    ALSGene    GeneNetwork
Gen2Phen   LOVD   Orphanet Human Proteome Map Proteomics DB ALS Data Browser

TOP META-ANALYSIS RESULT FROM ALSGENE

For more details on this and other meta-analysis results in this region please visit the ALSGene database

ANIMAL MODELS

                               

KEY PUBLICATIONS (14)

First_AuthorYearTitlePaper
Chen2013PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosisFull_Paper
Daoud2013Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patientsFull_Paper
Dillen2013Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patientsFull_Paper
Fratta2013Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosisFull_Paper
Ingre2012A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohortsFull_Paper
Ingre2013A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohortsFull_Paper
Smith2014Novel mutations support a role for Profilin 1 in the pathogenesis of ALSFull_Paper
Tiloca2012Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementiaFull_Paper
Tiloca2013Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementiaFull_Paper
van Blitterswijk2013Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementiaFull_Paper
Wu2012Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosisFull_Paper
Yang2013Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosisFull_Paper
Yang2013Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosisFull_Paper
Zou2013Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese originFull_Paper