Gene Symbol | CSF3R |
Entrez Gene ID | 1441 |
Full Name | colony stimulating factor 3 receptor |
Synonyms | CD114,GCSFR,SCN7 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3) |