GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneELP3
Other namesFLJ10422, KAT9
Gene nameelongation protein 3 homolog (S. cerevisiae)
Gene inheritanceSALS genes
Discovery methodMicrosatellite, GWAS
Category 
Chromosome8p21.1
GRCh37 (hg19)Chr8:27950584-28048670 ( +)
GRCh38 (hg38)Chr8:28090231-28191153(+)
BackgroundVariation in the genes SOD1 and TARDBP accounts for a small percentage of cases, and other genes have shown association in both candidate gene and genome-wide studies, but the genetic causes remain largely unknown.
ResultThese findings add to the growing body of evidence implicating the RNA processing pathway in neurodegeneration and suggest a critical role for ELP3 in neuron biology and of ELP3 variants in ALS.
Mutations0
Patients0

BIOINFORMATICS

Entrez Gene  UCSC Browser  Protein Structure  OMIM  Genecards  Full Literature  ProtScale  Sequence    Uniprot
iHop  Pathway  GeneTest  ALS review                  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 (1)

First_AuthorYearTitlePaper
Simpson2008Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degenerationFull_Paper