Centro de Biología Molecular Severo Ochoa (CSIC-UAM), C/Nicolás Cabrera, N.1, Universidad Autónoma, Madrid, Spain.
Curr Opin Rheumatol. 2013 Jul;25(4):419-25. doi: 10.1097/BOR.0b013e328362042f.
Endoplasmic reticulum aminopeptidase 1 (ERAP1) is an aminopeptidase of the endoplasmic reticulum involved in trimming of peptides to their optimal size for binding to major histocompatibility complex class I molecules. Natural ERAP1 polymorphism resulting in altered enzymatic activity is associated with ankylosing spondylitis, an inflammatory disorder very strongly linked to HLA-B27.
This review will summarize recent advances in the genetics of ERAP1 association with this disease, in the molecular basis of ERAP1 function and in the mechanism of functional interaction between ERAP1 and HLA-B27.
The findings suggest that the pathogenetic role of ERAP1 in ankylosing spondylitis is due to allotype-dependent alterations of the HLA-B27 peptidome that affect the immunologic and other features of HLA-B27.
内质网氨肽酶 1（ERAP1）是一种内质网氨肽酶，参与将肽修剪至与其与主要组织相容性复合体 I 类分子结合的最佳大小。天然 ERAP1 多态性导致酶活性改变与强直性脊柱炎有关，这是一种与 HLA-B27 密切相关的炎症性疾病。
本文综述了 ERAP1 与该疾病关联的遗传学、ERAP1 功能的分子基础以及 ERAP1 和 HLA-B27 之间功能相互作用的机制方面的最新进展。
这些发现表明，ERAP1 在强直性脊柱炎中的致病作用是由于 HLA-B27 肽组的同种型依赖性改变，影响 HLA-B27 的免疫和其他特征。
