PI4KAP2

Ideogram human chromosome 22

Phosphatidylinositol 4-kinase alpha polypeptide 2 (PI4KAP2), also known as C20orf6, is a protein-coding gene located on chromosome 20 in humans. This gene encodes a protein that plays a role in the regulation of phosphatidylinositol 4-kinase activity.

Function

PI4KAP2 is involved in the regulation of phosphatidylinositol 4-kinase, an enzyme that phosphorylates phosphatidylinositol to generate phosphatidylinositol 4-phosphate. This phosphorylation event is crucial for various cellular processes, including membrane trafficking and signal transduction.

Structure

The PI4KAP2 gene encodes a protein with a conserved domain that interacts with phosphatidylinositol 4-kinase. This interaction is essential for the proper functioning of the enzyme and its regulation within the cell.

Clinical Significance

Mutations in the PI4KAP2 gene have been associated with certain diseases and disorders, although further research is needed to fully understand the implications of these genetic variations on human health.