DISEASES

Disease-gene associations mined from literature

Literature associating PLEKHA8 and hereditary sensory and autonomic neuropathy type 1

PLEKHA8 [ENSP00000397947]

Pleckstrin homology domain-containing family A member 8; Cargo transport protein that is required for apical transport from the Golgi complex. Transports AQP2 from the trans-Golgi network (TGN) to sites of AQP2 phosphorylation. Mediates the non-vesicular transport of glucosylceramide (GlcCer) from the trans-Golgi network (TGN) to the plasma membrane and plays a pivotal role in the synthesis of complex glycosphingolipids. Binding of both phosphatidylinositol 4- phosphate (PIP) and ARF1 are essential for the GlcCer transfer ability. Also required for primary cilium formation, possibly by being involved in the transport of raft lipids to the apical membrane, and for membrane tubulation.

Synonyms:  PLEKHA8,  PLEKHA8p,  hPLEKHA8,  A0A087X1S6,  A0A2P1JJM6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM