DISEASES

Disease-gene associations mined from literature

Literature associating TRIP10 and familial hypocalciuric hypercalcemia

TRIP10 [ENSP00000320117]

Cdc42-interacting protein 4; Required for translocation of GLUT4 to the plasma membrane in response to insulin signaling (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. Binds to lipids such as phosphatidylinositol 4,5- bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by recruiting WASL/N-WASP which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Required for the formation of podosomes, actin-rich adhesion structures specific to monocyte- derived cells. May be required for the lysosomal retention of FASLG/FASL; Belongs to the FNBP1 family.

Synonyms:  TRIP10,  TRIP10p,  hTRIP10,  M0R070,  M0R0F9 ...

Linkouts:  STRING  Pharos  UniProt