The epn1 gene encodes an epsin protein which is a clathrin coat assembly protein involved in endocytosis. In early development, its mrna is expressed maternally and later localizes to the developing br...[+]

The epn1 gene encodes an epsin protein which is a clathrin coat assembly protein involved in endocytosis. In early development, its mrna is expressed maternally and later localizes to the developing brain, neural tube, cranial ganglia, eye, otic vesicle, branchial arches, and pronephros. The protein functions in the internalization of ligand-activated egf receptors and other cargo from the plasma membrane into vesicles. It localizes to the cytoplasm and cell cortex where it binds membranes containing phosphatidylinositol 4,5-bisphosphate and facilitates clathrin-coated pit formation. [-]

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