DISEASES

Disease-gene associations mined from literature

Literature associating ITSN2 and Landau-Kleffner syndrome

ITSN2 [ENSP00000347244]

Intersectin-2; Adapter protein that may provide indirect link between the endocytic membrane traffic and the actin assembly machinery. May regulate the formation of clathrin-coated vesicles (CCPs). Seems to be involved in CCPs maturation including invagination or budding. Involved in endocytosis of integrin beta-1 (ITGB1) and transferrin receptor (TFR). Plays a role in dendrite formation by melanocytes .

Synonyms:  ITSN2,  ITSN2p,  hITSN2,  A0A087WVF7,  E7EPJ2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM