Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep568 | Endocrine-Related Cancer | ECE2022

New insights into armadillo repeat-containing 5 gene: originated in gene mutation, suffering protein property alteration, culminate in function inactivation

Han Minmin , Cao Xiaoming , Lin Xueming , Lv Xiao , Xue Ruizhi , Zhang Chunduo , Chen Bingjun , Zhang Jian , Li Mengnan , Liu Yunfeng

Introduction: As a tumor-suppressor gene, armadillo repeat-containing 5 (ARMC5) gene regulates steroidogenesis and cell apoptosis in manner of second-hit model. Mutations of ARMC5 gene will disturb its normal function, leading to reduced cortisol synthesis and cell apoptosis, which is acknowledged as a frequent cause of primary bilateral macronodular adrenal hyperplasia (PBMAH). Not until another somatic ARMC5 mutation occur in germline mutation carriers, will they manifest as...