CSF3R

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]

该基因编码的蛋白质为集落刺激因子3的受体，集落刺激因子3是一种调控粒细胞生产、分化和功能的细胞因子。编码的蛋白质属于细胞因子受体家族，可能在某些细胞表面粘附或识别过程中发挥作用。此外，尚有可变剪接的转录体变异被描述。该基因的突变是科斯坦曼综合征（也称为严重先天性粒细胞减少症）的病因。[由RefSeq提供，2010年8月]