中国医学前沿杂志（电子版）2023，Vol.15Issue(12)：42-49,8.DOI:10.12037/YXQY.2023.12-07
ATP结合盒转运蛋白亚家族C成员8基因突变相关疾病研究进展
Research progress of disease related to ATP binding cassette subfamily C member 8 gene mutation
聂辰宇 1吕晓宇 1侯新国1
作者信息
- 1. 山东大学齐鲁医院 内分泌科,山东 济南 250012
- 折叠
摘要
Abstract
ABCC8 gene codes sulfonylurea receptor 1(SUR1)subunit,is part of adenosine triphosphate(ATP)-sensitive potassium channels(KATP channels).In islet β cells,SUR1 subunits regulate insulin secretion by affecting KATP channels.The pathogenic mutations of ABCC8 mainly include two types:activating mutations and inactivating mutations.Different types and different domains of the same type of mutations cause different clinical manifestations and biochemical characteristics.An in-depth understanding of the relationship between typical clinical manifestations and gene mutation characteristics can contribute to the accurate diagnosis and treatment of this type of diseases.关键词
ABCC8基因/SUR1/新生儿糖尿病/先天性高胰岛素血症/青少年起病的成人型糖尿病Key words
ABCC8 gene/SUR1/Neonatal diabetes mellitus/Congenital hyperinsulinemia/Maturity-onset diabetes of the young引用本文复制引用
聂辰宇,吕晓宇,侯新国..ATP结合盒转运蛋白亚家族C成员8基因突变相关疾病研究进展[J].中国医学前沿杂志（电子版）,2023,15(12):42-49,8.
