PIP5K1B


Description

The PIP5K1B (phosphatidylinositol-4-phosphate 5-kinase type 1 beta) is a protein-coding gene located on chromosome 9.

Phosphatidylinositol-4-phosphate 5-kinase type-1 beta is an enzyme that in humans is encoded by the PIP5K1B gene. Abnormal silencing of the PIP5K1B gene contributes to the cytoskeletal defects seen in Friedreich's ataxia.

PIP5K1B catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PI4P) to produce phosphatidylinositol 4,5-bisphosphate (PIP2), a crucial lipid second messenger involved in various cellular functions. These functions include signal transduction, vesicle trafficking, regulation of the actin cytoskeleton, cell adhesion, and cell motility. PIP2 can act directly as a second messenger or be converted into other important second messengers like inositol 1,4,5-trisphosphate (IP3), diacylglycerol (DAG), and phosphatidylinositol-3,4,5-trisphosphate (PIP3). PIP5K1B facilitates RAC1-dependent rearrangement of actin filaments and contributes to the activation of phospholipase PLD2. In collaboration with PIP5K1A, it plays a role in producing IP3, which is essential for stable platelet adhesion following stimulation by G-protein coupled receptors.

PIP5K1B is also known as MSS4, STM7.

Associated Diseases


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