GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneHNRNPA1
Other nameshnRNPA1, hnRNP A1, hnRNP-A1, hnRNP core protein A1, HNRPA1, HNRPA1L3, MGC102835, Single-strand RNA-binding protein
Gene nameheterogeneous nuclear ribonucleoprotein A1
Gene inheritanceFALS genes
Discovery methodLinkage Analysis,NGS
Category 
Chromosome12q13.1
GRCh37 (hg19)Chr12:54674488-54679030(+)
GRCh38 (hg38)Chr12:54280696-54287087(+)
BackgroundAlgorithms designed to identify canonical yeast prions predict that around 250 human proteins, including several RNA-binding proteins associated with neurodegenerative disease, harbour a distinctive prion-like domain (PrLD) enriched in uncharged polar amino acids and glycine.
Resultotably, the disease mutations promote excess incorporation of hnRNPA2 and hnRNPA1 into stress granules and drive the formation of cytoplasmic inclusions in animal models that recapitulate the human pathology.
Mutations2
Patients0

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (1)

First_AuthorYearTitlePaper
Kim2013Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALSFull_Paper