PI4KAP1
Description
The PI4KAP1 (phosphatidylinositol 4-kinase alpha pseudogene 1) is a pseudo gene located on chromosome 22.
PI4KAP1 is a gene that encodes a protein involved in the synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), a major signaling lipid involved in various cellular processes, including membrane trafficking, cytoskeletal organization, and cell signaling. Mutations in this gene have been associated with intellectual disability and autism spectrum disorder.
PI4KAP1 (phosphatidylinositol 4-kinase, alpha polypeptide 1) is a protein-coding gene that catalyzes the phosphorylation of phosphatidylinositol (PtdIns) to phosphatidylinositol 4-phosphate (PtdIns4P). This phosphorylation reaction is crucial for the synthesis of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), a major signaling lipid involved in various cellular processes, including membrane trafficking, cytoskeletal organization, and cell signaling. PI4KAP1 is highly expressed in the brain, where it plays a role in neuronal development and function. Mutations in PI4KAP1 have been associated with intellectual disability and autism spectrum disorder.
PI4KAP1 is also known as -.
