菜单 基因医生

该基因编码转录因子CCAAT/增强子结合蛋白（C/EBP）家族的一个成员。该蛋白通过与其他c/ebp成员形成异二聚体，如c/ebp和lap（肝激活蛋白），并阻止其DNA结合活性，发挥显性阴性抑制剂的作用。该蛋白与脂肪生成和红细胞生成有关，被内质网应激激活，并促进凋亡。在黏液样脂肪肉瘤或尤因肉瘤中，该基因与16号染色体上的fus或22号染色体上的ewsr1融合产生嵌合蛋白。多个选择性剪接转录变异体编码两个不同长度亚型已被确定。
This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified.