Synonyms:CD114, CSF3R, ENTREZ:1441, GCSFR, HGNC:2439, MIM:138971, NM_000760, NM_156038, NM_156039, NM_172313, NP_000751, NP_724781, NP_758519, SCN7, XM_005270493, XM_011540748, XM_011540749, XM_011540750, XM_017000370, XP_005270550, XP_011539050, XP_011539051, XP_011539052, XP_016855859, colony stimulating factor 3 receptor
Omim:OMIM:138971
Nci:C24313
Id:ENSG00000119535
Hgnc:HGNC:2439
Description:colony stimulating factor 3 receptor
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. [provided by RefSeq, Aug 2010]