GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneHFE
Other namesHH; HFE1; HLA-H; MGC103790; dJ221C16.10.1
Gene nameHH; HFE1; HLA-H; MGC103790; dJ221C16.10.1
Gene inheritanceSALS genes
Discovery methodCandidate gene
CategoryOXIDATIVE STRESS
Chromosome6p21.3
Genomic CoordinatesChr6:26087509-26095469 ( +)
BackgroundOxidative stress is hypothesized to be implicated in neurodegeneration and misregulation of iron induces oxidative stress. Also, abnormal iron levels found in spinal cords of ALS patients
ResultContradictory results
Total Mutations0
Total Affected0

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  Life Science DB(Japan)  ALSGene    GeneNetwork
Gen2Phen   LOVD   Orphanet Human Proteome Map Proteomics DB

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 (6)

First_AuthorYearTitlePaper
Goodall2005Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALSFull_Paper
He2010H63D polymorphism in the hemochromatosis gene is associated with sporadic amyotrophic lateral sclerosis in ChinaFull_Paper
Restagno2007HFE H63D polymorphism is increased in patients with amyotrophic lateral sclerosis of Italian originFull_Paper
Sutedja2007The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch populationFull_Paper
Wang2004Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequencesFull_Paper
Yen2004HFE mutations are not strongly associated with sporadic ALSFull_Paper