Progress in the function of IL1RAPL1, an X-linked nonspecific mental retardation-associated gene
10.3760/cma.j.issn.1673-4408.2022.03.006
- VernacularTitle:X连锁非特异性精神发育迟滞相关基因IL1RAPL1功能研究进展
- Author:
Rongrong YIN
1
;
Anqi WANG
;
Yucai CHEN
Author Information
1. 上海市儿童医院 上海交通大学附属儿童医院神经内科 200062
- Keywords:
IL1RAPL1;
X-linked nonspecific mental retardation;
Excitatory postsynaptic membrane;
Dendrites
- From:
International Journal of Pediatrics
2022;49(3):168-172
- CountryChina
- Language:Chinese
-
Abstract:
IL1RAPL1 gene is one of the genes related to X-linked nonspecific mental retardation(MRX), but its pathogenic mechanism has not been fully clarified.Interleukin-1 receptor accessory protein like 1(IL1RAPL1) is a synaptic adhesion molecule located on postsynaptic membrane.The mutation of IL1RAPL1 gene can lead to the deletion or dysfunction of this protein.Recent studies have shown that the IL1RAPL1 protein regulates dendritic formation and mediates the activity of IL-1β molecules on dendritic morphology.This review describes the latest advances in synaptic and neuronal functions of IL1RAPL1, and summarizes some gene mutations that have been found to be associated with mental retardation(MR)and autism spectrum disorder(ASD), to provide evidence for clinical diagnosis and treatment.
