Article
ERAP2 functional knockout in humans does not alter surface heavy chains or HLA-B27, inflammatory cytokines or endoplasmic reticulum stress markers.
Annals of the rheumatic diseases - 1 Nov 2015
Robinson Philip C, Lau Eugene, Keith Patricia, Lau Max C, Thomas Gethin P, Bradbury Linda A, Brown Matthew A, Kenna Tony J
Abstract excerpt
INTRODUCTION: Single nucleotide polymorphisms in ERAP2 are strongly associated with ankylosing spondylitis (AS). One AS-associated single nucleotide polymorphism, rs2248374, causes a truncated ERAP2 protein that is degraded by nonsense-mediated decay. Approximately 25% of the populations of European ancestry are therefore natural ERAP2 knockouts. We investigated the effect of this associated variant on HLA class...
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