colony stimulating factor 3 receptor
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface.
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From NCBI Gene:
- Neutropenia, severe congenital, 7, autosomal recessive
Neutropenia, severe congenital 7, autosomal recessive (SCN7): A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. [MIM:617014]
Hereditary neutrophilia (NEUTROPHILIA): A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood. [MIM:162830]