PLEKHA8
Description
The PLEKHA8 (pleckstrin homology domain containing A8) is a protein-coding gene located on chromosome 7.
Pleckstrin homology domain containing A8 is a protein that in humans is encoded by the PLEKHA8 gene.
PLEKHA8 is a cargo transport protein that facilitates apical transport from the Golgi complex. It plays a crucial role in the transport of aquaporin 2 (AQP2) from the trans-Golgi network (TGN) to sites of AQP2 phosphorylation. Furthermore, it mediates the non-vesicular transport of glucosylceramide (GlcCer) from the TGN to the plasma membrane, contributing to the synthesis of complex glycosphingolipids. The binding of both phosphatidylinositol 4-phosphate (PIP) and ARF1 is essential for this GlcCer transfer ability. PLEKHA8 is also involved in primary cilium formation, possibly through the transport of raft lipids to the apical membrane, and it contributes to membrane tubulation.
PLEKHA8 is also known as FAPP2.
Associated Diseases
- multicystic dysplastic kidney
- Mayer-Rokitansky-Kuster-Hauser syndrome
- Joubert syndrome with oculorenal defect
- genito-palato-cardiac syndrome
- renal dysplasia
- colorectal cancer
- breast cancer
