INPP5K

INPP5K, also known as inositol polyphosphate-5-phosphatase K, is a protein that in humans is encoded by the INPP5K gene. This gene is located on chromosome 19q13.3. INPP5K is a member of the inositol polyphosphate 5-phosphatase family, which plays a crucial role in the regulation of cellular signaling pathways.

The INPP5K protein is involved in the hydrolysis of inositol polyphosphates, particularly inositol pentakisphosphate (IP5). This process is essential for maintaining the balance of inositol polyphosphates, which are important second messengers in cellular signaling. INPP5K is expressed in various tissues, including the brain, heart, and skeletal muscle, suggesting its involvement in multiple physiological processes.

Mutations in the INPP5K gene have been associated with certain neurological disorders, such as Charcot-Marie-Tooth disease type 2A (CMT2A). These mutations can lead to a deficiency in INPP5K activity, resulting in altered inositol polyphosphate levels and disrupted cellular signaling. This highlights the importance of INPP5K in maintaining normal neuronal function and development.

INPP5K is a key enzyme in the regulation of inositol polyphosphate metabolism, and its dysregulation can have significant implications for cellular signaling and physiological function. Further research is needed to fully understand the roles and mechanisms of INPP5K in health and disease.