Variants
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EGFR Gene

epidermal growth factor receptor

ALIAS SYMBOLS

  • ERBB1

  • ERRP

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Description

The EGFR gene provides instructions for making a receptor protein called the epidermal growth factor receptor, which spans the cell membrane so that one end of the protein remains inside the cell and the other end projects from the outer surface of the cell. This positioning allows the receptor to attach (bind) to other proteins, called ligands, outside the cell and to receive signals that help the cell respond to its environment. Ligands and receptors fit together like keys into locks. Epidermal growth factor receptor binds to at least seven different ligands. The binding of a ligand to epidermal growth factor receptor allows the receptor to attach to another nearby epidermal growth factor receptor protein (dimerize), turning on (activating) the receptor complex. As a result, signaling pathways within the cell are triggered that promote cell growth and division (proliferation) and cell survival.

CHROMOSOME

7


LOCATION

p11.2


LOCUS TYPE

gene with protein product

VARIANTS

1,339

SEE THE VARIANTS →

Phenotypes

External Links

  • HGNC

    HGNC:3236

  • NCBI

    1956

  • OMIM

    131550

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