Pleckstrin homology domain-containing family A member 1 (PLEKHA1)

Pleckstrin homology domain-containing family A member 1 (PLEKHA1) is an adaptor protein localized at the plasma membrane, notable for its ability to specifically bind phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2)[1][4]. It likely participates in the formation of signaling complexes critical for certain intracellular signaling and membrane dynamics processes[1][2][4]. PLEKHA1 has been associated with the pathogenesis of age-related macular degeneration (AMD) through the presence of disease-associated polymorphisms, although the molecular mechanisms and biological function of PLEKHA1 in normal and disease states are not yet fully elucidated[1][2]. There are no known drugs directly targeting this protein, and it does not currently have established roles as a therapeutic receptor or enzyme. Key Points: - PLEKHA1 is an adaptor/scaffold protein characterized by its PH domain. - It binds specifically to phosphoinositides, playing a potential role in cell signaling at the plasma membrane. - Genetic variations in PLEKHA1 are linked to increased risk for age-related macular degeneration, implicating it in retinal disease susceptibility rather than as a direct therapeutic target[1][2]. - No approved drugs or mechanisms of action specific to PLEKHA1 modulation have been described in available sources[1][2].

Other names

TAPP1Tandem PH domain-containing protein 1PH domain-containing family A member 1pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1TAPP-1