CD117, also called KIT or C-kit receptor, is a cytokine receptor expressed on the surface of hematopoietic stem cells as well as other cell types. This receptor binds to stem cell factor (a substance that causes certain types of cells to grow). Altered forms of this receptor may be associated with some types of cancer.[1]

This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene.

c-kit的配体为干细胞生长因子.c-kit受体正常表达于造血干/祖细胞,在急性淋巴细胞白血病中极少或不表达,而在急性髓性白血病(AML)中则表达较高,但在AML的各亚型表达不尽一致,因而c-kit受体检测有助于急性白血病(AL)的分类诊断和分型诊断.s-kit在原发性AML患者的表达高于MDS转变的AML,因此,s-kit检测有助于两种不同AML的鉴别诊断.SCF/c-kit诱导的细胞凋亡耐受与AML患者化疗疗效差有关,抗c-kit单抗可逆转AL细胞对化疗的凋亡耐受,这为难治性AML的治疗提供了新的思路.