DISEASES

Disease-gene associations mined from literature

Literature associating EZR and neurofibromatosis

EZR [ENSP00000338934]

Ezrin; Probably involved in connections of major cytoskeletal structures to the plasma membrane. In epithelial cells, required for the formation of microvilli and membrane ruffles on the apical pole. Along with PLEKHG6, required for normal macropinocytosis.

Synonyms:  EZR,  E7EQR4,  P15311,  E7EQR4p,  hE7EQR4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM