GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneVDR
Other namesNR1I1
Gene namevitamin D (1,25- dihydroxyvitamin D3) receptor
Gene inheritanceSALS genes
Discovery methodGWAS
CategoryPOOR METABOLISM OF XENOBIOTICS
Chromosome12q12
GRCh37 (hg19)Chr12:48235320-48298814 ( -)
GRCh38 (hg38)Chr12:47841537-47905031(-)
BackgroundLead exposure associated with ALS. Vitamin D can affect lead absorption and distribution
ResultNot significant
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 (2)

First_AuthorYearTitlePaper
Kamel2002Lead exposure and amyotrophic lateral sclerosisFull_Paper
Kamel2003Amyotrophic lateral sclerosis, lead, and genetic susceptibility: polymorphisms in the delta-aminolevulinic acid dehydratase and vitamin D receptor genesFull_Paper