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The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia.
Gene Name: | colony stimulating factor 3 receptor (granulocyte) |
Synonyms: | CSF3R, CD114, G-CSF-R, G-CSF receptor, CD114 antigen, GCSFR |
Target Sequences: | NM_000760 NP_000751.1 Q99062 |
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