DISEASES

Disease-gene associations mined from literature

Literature associating FNBP1 and familial hypocalciuric hypercalcemia

FNBP1 [ENSP00000413625]

Formin-binding protein 1; May act as a link between RND2 signaling and regulation of the actin cytoskeleton (By similarity). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during the late stage of clathrin-mediated endocytosis. Binds to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promotes membrane invagination and the formation of tubules. Also enhances actin polymerization via the recruitment of WASL/N-WASP, which in turn activates the Arp2/3 complex. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. May be required for the lysosomal retention of FASLG/FASL. ECO:0000269|PubMed:15252009, ECO:0000269|PubMed:16318909, ECO:0000269|PubMed:16326391, ECO:0000269|PubMed:16418535,; Belongs to the FNBP1 family.

Synonyms:  FNBP1,  FNBP1p,  hFNBP1,  B7ZL14,  H0Y7W6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM