The egfr gene encodes a membrane-bound receptor tyrosine kinase that binds epidermal growth factor (EGF) and other ligands. In development, the egfr protein functions in epidermal cell proliferation, n...[+]

The egfr gene encodes a membrane-bound receptor tyrosine kinase that binds epidermal growth factor (EGF) and other ligands. In development, the egfr protein functions in epidermal cell proliferation, neural crest cell migration, craniofacial patterning, and formation of the cement gland and pronephros. It is involved in cell survival and mitogenic signaling pathways. The protein is localized to the cell membrane and transduces signals via downstream effectors like MAPK/ERK. Its activity is regulated by feedback mechanisms and is necessary for proper ectodermal patterning. [-]

          NEONATAL NEPHROCUTANEOUS INFLAMMATORY SYNDROME; NNCIS

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