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Target intelligence / Profile preview
Pleckstrin homology domain-containing family A member 3 (PLEKHA3)
- Target
- PLEKHA3
- Molecular classification
- Other, Phosphoinositide-binding protein, Adapter protein in membrane trafficking
01
Overview
Pleckstrin homology domain-containing family A member 3 (PLEKHA3, also known as FAPP1) is a cytosolic adapter protein that plays a critical role in vesicular cargo transport from the trans-Golgi network to the plasma membrane. It binds preferentially to phosphatidylinositol 4-phosphate (PtdIns(4)P) and helps regulate the activity of the PtdIns(4)P phosphatase SACM1L, impacting Golgi phosphoinositide levels. PLEKHA3 is involved in endosome organization, receptor recycling, and retrograde trafficking. It is broadly expressed and has been genetically associated with some rare diseases but is not a common direct therapeutic target[1][8][9][2][3][4].
- Other names
- Pleckstrin homology domain containing A3FAPP1Four-phosphate-adaptor protein 1Phosphatidylinositol-four-phosphate adapter protein 1Pleckstrin homology domain-containing family A member 3PH domain-containing family A member 3
02
Biological functions
Regulation of vesicular cargo transportEndosome organizationReceptor recyclingRetrograde transport (endosome to Golgi)Regulation of Golgi phosphatidylinositol 4-phosphate levelsProtein binding (phosphatidylinositol-4-phosphate)
03
Disease associations
Myasthenic syndrome, congenital, 10Rhizomelic chondrodysplasia punctata, type 3Other
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