INPP5E

INPP5E is a gene that encodes the inositol polyphosphate-5-phosphatase E protein in humans. This protein is involved in the regulation of cellular processes such as cell growth, differentiation, and motility. Mutations in this gene have been associated with Joubert syndrome and MORM syndrome, both of which are rare genetic disorders.

Function

The INPP5E gene provides instructions for making an enzyme that is found in the primary cilium, a small antenna-like structure present on the surface of many types of cells. This enzyme plays a crucial role in the function of the primary cilium by regulating the levels of a group of fats called phosphoinositides. Phosphoinositides are involved in transmitting signals from outside the cell to inside the cell, a process known as signal transduction.

Clinical significance

Mutations in the INPP5E gene can lead to the development of Joubert syndrome and MORM syndrome. Joubert syndrome is characterized by a specific brain abnormality called the molar tooth sign, which affects the cerebellum and brainstem. MORM syndrome is characterized by intellectual disability, obesity, retinal dystrophy, and micropenis.

Research

Research into the INPP5E gene and its associated protein continues to be a significant focus in the field of genetic research. Understanding the function and regulation of this gene could lead to new treatments for the diseases associated with its mutation.