DISEASES

Disease-gene associations mined from literature

Literature associating GOLPH3 and intermittent explosive disorder

GOLPH3 [ENSP00000265070]

Golgi phosphoprotein 3; Phosphatidylinositol-4-phosphate-binding protein that links Golgi membranes to the cytoskeleton and may participate in the tensile force required for vesicle budding from the Golgi. Thereby, may play a role in Golgi membrane trafficking and could indirectly give its flattened shape to the Golgi apparatus. May also bind to the coatomer to regulate Golgi membrane trafficking. May play a role in anterograde transport from the Golgi to the plasma membrane and regulate secretion. Has also been involved in the control of the localization of Golgi enzymes through interaction with their cytoplasmic part. May play an indirect role in cell migration. Has also been involved in the modulation of mTOR signaling. May also be involved in the regulation of mitochondrial lipids biosynthesis. ECO:0000269|PubMed:19553991, ECO:0000269|PubMed:19837035, ECO:0000269|PubMed:22745132, ECO:0000269|PubMed:23027862,; Belongs to the GOLPH3/VPS74 family.

Synonyms:  GOLPH3,  GOLPH3p,  hGOLPH3,  D6REM1,  Q9H4A6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM