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Also known as: SCN7; CD114; GCSFR
The protein encoded by this gene is the receptor for colony-stimulating factor 3, a cytokine that controls granulocyte production, differentiation and function. The encoded protein is a member of the cytokine receptor family and may also play a role in certain cell surface adhesion or recognition processes. Alternative spliced transcript variants have been described. Mutations in this gene are responsible for Kostmann syndrome, also known as severe congenital neutropenia.