Gene "HERPUD1"
Found 1 record
Gene information
Gene symbol:
HERPUD1
See related:
Ensembl: ENSG00000051108, Gene ID: 9709
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
1 
Disorder:
1 
Vriant:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Variant 1:
    HERPUD1:rs2217332
    Gene:
    HERPUD1
    Genomic location:
    dbSNP ID:
    rs2217332
    Target disease:
    Abnormality Of The Liver(HP:0001392)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    Gene activity study 
    Effect:
    Contribute to liver damages progression associated with 1ATD
    Reference:
    PMID28617828
    Title:
    ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.
    Species studied:
    Human
    Abstract:
    The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence in Z-1AT patients, it seems that liver disease progression is linked to still unknown genetic factors.