Pleckstrin homology domain-containing family A member 8 (PLEKHA8)

The pleckstrin homology domain-containing family A member 8 (PLEKHA8, commonly known as FAPP2) is an essential lipid-transfer and adaptor protein predominantly localized at the trans-Golgi network and nucleoplasm[1][2][3]. PLEKHA8 binds phosphatidylinositol 4-phosphate via its pleckstrin homology domain and facilitates vesicle generation and fission, ensuring proper trafficking of apical cargo in polarized cells. It couples lipid transfer activity with glycosphingolipid metabolism, delivering glucosylceramide from ER to the plasma membrane. PLEKHA8 is involved in ciliogenesis and maintenance of membrane identity. Altered expression of PLEKHA8 impacts cell survival, proliferation, and has been implicated in cancer progression (where downregulation sensitizes cells to apoptosis), pregnancy disorders (via miRNA-mediated repression), and neurodevelopmental disorders such as autism spectrum disorder (where rare variants confer genetic risk)[1][2][3].

Other names

FAPP2PH domain-containing family A member 8Phosphoinositol 4-phosphate adapter protein 2hFAPP2MGC3358Phosphatidylinositol-four-phosphate adapter protein 2Serologically defined breast cancer antigen NY-BR-86Phosphatidylinositol 4-phosphate adaptor protein-2