MITF(Microphthalmia-associated transcription factor)是bHLH-Zip转录因子家族的成员,主要在黑色素细胞中调控色素合成、细胞增殖与分化。MITF在多种细胞类型中表达,尤其是在黑色素细胞、视网膜细胞和部分免疫细胞中。它通过激活下游基因的表达,参与多条信号通路,对维持细胞正常功能和发展至关重要。MITF基因的特异性表达和突变与多种疾病相关,包括Waardenburg综合征、Tietz综合征和黑色素瘤。
MITF (Microphthalmia-associated transcription factor) is a member of the bHLH-Zip transcription factor family, primarily regulating pigmentation, cell proliferation, and differentiation in melanocytes. It is expressed in various cell types, especially in melanocytes, retinal cells, and some immune cells. MITF activates the expression of downstream genes, participating in multiple signaling pathways, essential for maintaining normal cell function and development. Specific expression and mutations of the MITF gene are associated with several diseases, including Waardenburg syndrome, Tietz syndrome, and melanoma.