DISEASES

Disease-gene associations mined from literature

Literature associating EPN1 and familial erythrocytosis 1

EPN1 [ENSP00000406209]

EH domain-binding mitotic phosphoprotein; Binds to membranes enriched in phosphatidylinositol 4,5- bisphosphate (PtdIns(4,5)P2). Modifies membrane curvature and facilitates the formation of clathrin-coated invaginations (By similarity). Regulates receptor-mediated endocytosis; Belongs to the epsin family.

Synonyms:  EPN1,  EPN1p,  hEPN1,  A0A024R4S1,  B4DU91 ...

Linkouts:  STRING  Pharos  UniProt  OMIM