基因名称：CEBPA （CCAAT/enhancer binding protein alpha）
别名： C/EBP-alpha,CEBP
基因ID：1050
Chromosome(GRCh37) ：19 Start: 33790840 End: 33793470 Strand: -1
信号通路： 细胞增殖
能量代谢
靶向药： All-trans Retinoic Acid OICR-9429
化疗药：
简介：这个无内含子基因编码一个转录因子，该转录因子包含一个碱性亮氨酸拉链（bzip）结构域，并识别目标基因启动子中的ccaat基序。编码蛋白在具有CCAAT/增强子结合蛋白β和γ的同二聚体和异二聚体中起作用。这种蛋白的活性可以调节参与细胞周期调节和体重平衡的基因表达。该基因突变与急性髓系白血病有关。在非aug（gug）和aug-start密码子框架中使用替代密码子导致不同长度的蛋白质亚型。差异翻译起始由位于gug和第一个aug起始密码子之间的一个帧外、上游开放阅读帧介导。This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons.
CEBPA突变与药物：
MUTATION
药物：
All-trans Retinoic Acid 疾病：
急性髓性白血病
N-TERMINAL FRAME SHIFT
药物：
OICR-9429
疾病：
急性髓性白血病
BIALLELIC INACTIVATION
药物：
Ziv-阿柏西普
疾病：
急性髓性白血病
