GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneAPEX1
Other namesAPE; APX; APE1; APEN; APEX; HAP1; REF1; APE-1; REF-1
Gene nameAPEX nuclease (multifunctional DNA repair enzyme) 1
Gene inheritanceSALS genes
Discovery methodGWAS
CategoryALTERED DNA/RNA PROCESSING
Chromosome14q11.2
GRCh37 (hg19)Chr14:20923290-20925931 ( +)
GRCh38 (hg38)Chr14:20455131-20457772(+)
BackgroundDefective DNA repair hypothesis of ALS etiology
ResultMay have small role but not major factor
Mutations0
Patients0

BIOINFORMATICS

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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 (5)

First_AuthorYearTitlePaper
Coppede2010Lack of association between the APEX1 Asp148Glu polymorphism and sporadic amyotrophic lateral sclerosisFull_Paper
Greenway2004A novel candidate region for ALS on chromosome 14q11.2Full_Paper
Hayward1999Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosisFull_Paper
Olkowski1998Mutant AP endonuclease in patients with amyotrophic lateral sclerosisFull_Paper
Tomkins2000Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS)Full_Paper