GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneERBB4
Other namesALS19
Gene namev-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4
Gene inheritanceFALS genes
Discovery methodLinkage Analysis,NGS
Category 
Chromosome2q33.3-q34
GRCh37 (hg19)Chr2:212240442-213403352(-)
GRCh38 (hg38)Chr2:211375717-212539155(-)
BackgroundA whole- genome sequencing and parametric linkage analysis under the assumption of an autosomal-dominant mode of inheritance with incomplete penetrance.
Result This study indicates that disruption of the neuregulin-ErbB4 pathway is involved in the pathogenesis of ALS and potentially paves the way for the development of innovative therapeutic strategies such using NRGs or their agonists to upregulate ErbB4 functions.
Mutations2
Patients6

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
Takahashi2013ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19Full_Paper