Article
Naturally occurring ERAP1 haplotypes encode functionally distinct alleles with fine substrate specificity.
Journal of immunology (Baltimore, Md. : 1950) - 1 Jul 2013
Reeves Emma, Edwards Christopher J, Elliott Tim, James Edward
Abstract excerpt
Endoplasmic reticulum aminopeptidase 1 (ERAP1) trims peptides for MHC class I presentation, influencing the degree and specificity of CD8(+) T cell responses. Single-nucleotide polymorphisms within the exons encoding ERAP1 are associated with autoimmune diseases and cervical carcinoma, but it is not known whether they act independently or as disease-associated haplotypes. We sequenced ERAP1 from 20 individuals...
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