GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSOX5
Other namesL-SOX5; MGC35153
Gene nameSRY (sex determining region Y)-box 5
Gene inheritanceSALS genes
Discovery methodGWAS
Category 
Chromosome12p12.1
GRCh37 (hg19)Chr12:23685231-24715383 ( -)
GRCh38 (hg38)Chr12:23532297-24562449(-)
BackgroundTo identify novel disease-causing genes for
ResultIdentified 40 novel nonsynonymous variants
Mutations1
Patients0

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

ANIMAL MODELS

                               

KEY PUBLICATIONS (2)

First_AuthorYearTitlePaper
Daoud2011Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosisFull_Paper
Daoud2011Resequencing of 29 Candidate Genes in Patients With Familial and Sporadic Amyotrophic Lateral SclerosisFull_Paper