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FLASH GENE
Symbol ERAP1 contributors: mct/pgu - updated : 16-04-2017
HGNC name endoplasmic reticulum aminopeptidase 1
HGNC id 18173
ASSOCIATED DISORDERS
corresponding disease(s)
Susceptibility
  • to ankylosing spondylitis (AS), in HLA-B27-positive individuals
  • to preeclampsia
  • Variant & Polymorphism SNP , other
  • snp ERAP1-56 and ERAP1-127 significantly associated with clinical outcome in cervical carcinoma
  • rs27434, rs27689 and rs27043 strongly associated to AS
  • polymorphisms of ERAP1 increasing the risk of ankylosing spondylitis (AS), in HLA-B27-positive individuals (
  • associated with preeclampsia
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    healthy mice Erap1-/-. MHC class I levels were reduced in Erap1 -/- splenocytes, but not fibroblasts, and peptide trimming in Erap1 -/- fibroblasts was reduced. The immune response in Erap1 -/- mice to some viral peptides was altered due to lack of the trimming enzyme