Disease-gene associations mined from literature

Literature associating FCHO2 and early infantile epileptic encephalopathy 4

FCHO2 [ENSP00000393776]

F-BAR domain only protein 2; Functions in an early step of clathrin-mediated endocytosis. Has both a membrane binding/bending activity and the ability to recruit proteins essential to the formation of functional clathrin-coated pits. Has a lipid-binding activity with a preference for membranes enriched in phosphatidylserine and phosphoinositides (Pi(4,5) biphosphate) like the plasma membrane. Its membrane-bending activity might be important for the subsequent action of clathrin and adaptors in the formation of clathrin-coated vesicles. Involved in adaptor protein complex AP- 2-dependent endocytosis of the transferrin receptor, it also functions in the AP-2-independent endocytosis of the LDL receptor; F-BAR domain containing

Synonyms:  FCHO2,  FCHO2p,  hFCHO2,  B4DEU7,  H0YAE2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM