The epn2 gene encodes an epsin protein that functions as an endocytic accessory protein. It localizes to the plasma membrane and cytoplasmic vesicles, where it binds membranes via its ENTH domain, inte...[+]

The epn2 gene encodes an epsin protein that functions as an endocytic accessory protein. It localizes to the plasma membrane and cytoplasmic vesicles, where it binds membranes via its ENTH domain, interacts with ubiquitin and clathrin, and facilitates cadherin endocytosis. This activity is required for the directed migration of neural crest cells during development. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD