内质网氨肽酶与相关疾病研究进展  

Endoplasmic reticulum aminopeptidase and related diseases

作　　者：冯燕艳[1] 许丽娜[1] 普雄明[1] 

机构地区：[1]新疆维吾尔自治区人民医院皮肤科,乌鲁木齐830001

出　　处：《国际遗传学杂志》2014年第2期64-69,共6页International Journal of Genetics

基　　金：新疆维吾尔自治区人民医院院内项目（20130111）

摘　　要：内质网氨肽酶1（ERAPl）及其异构体内质网氨肽酶2（ERAP2）都属于锌指金属基质肽酶M1家族中的“催产素酶亚家族”，共用GAMEN和HEXXH（x）18E锌结合基序。ERAPs在细胞内质网中参与内源性抗原肽的修饰及提呈，被认为是内质网中参与内源性抗原肽修饰的关键酶。近年来GWAS研究显示ERAPs与自身免疫性疾病相关，本文对ERAPs结构、功能及其相关疾病进行综述。The ER aminopeptidase 1 （ERAP1） and the closely related ER aminopeptidase ER- AP2, belong to the M1 family of zinc-metallopeptidase enzymes which share the consensus GAMEN and HEXXH （ X ） 1 8 E zincbinding motifs essential for enzymatic activity. ERAPs involved in endogenous anti- gen peptide processing and presentation in endoplasmic reticulum and was considered as key enzyme in en- dogenous peptides modification. Recent GWAS showed the association of ERAP 1 and ERAP2 with several autoimmune diseases. In this review, we provide a general overview of ERAP1 and ERAP2 genes, their biological functions and their relevancy in related disease.

关 键 词：内质网氨肽酶 抗原提呈 全基因组关联分析 单核苷酸多态性 

分 类 号：R3411[医药卫生—基础医学]