该基因编码的蛋白质是集落刺激因子3的受体,集落刺激因子3是一种控制粒细胞产生、分化和功能的细胞因子。编码蛋白是细胞因子受体家族的一员,也可能在某些细胞表面粘附或识别过程中发挥作用。另外,还描述了拼接转录变体。这种基因的突变是导致Kostmann综合征的原因,也被称为严重先天性中性粒细胞减少症。
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.

基因名:CSF3R
别名:CD114,GCSFR
基因ID:1441
Chromosome:
(GRCh37)
1 Start: 36931644 End: 36948879 Strand: -1
信号通路:  
靶向药: 鲁索替尼 
化疗药: