Research progress of the INPP5E gene in primary cilium-related childhood diseases / 中华实用儿科临床杂志

ABSTRACT

The inositol polyphosphate-5-phosphatase ( INPP5E) gene encodes INPP5E, which is widely distributed in various tissues of humans and mice like the heart, brain and testis.It affects the phosphoinositide metabolic pathway by regulating the intracellular phosphatidylinositol triphosphate content, thus participating in intracellular signal transduction, cell proliferation and differentiation, cell polarity and other processes.The INPP5E gene plays a pivotal role in primary ciliogenesis and is closely related to childhood ciliary diseases.Therefore, this article review the research progress of the INPP5E gene in primary cilium-related pediatric diseases.Combined with laboratory findings, this review aims to provide new ideas for the regulation of the INPP5E gene in primary cilia and the prevention and treatment of pediatric ciliopathies.