MITF
小结
MITF是致癌基因，编码蛋白是一种转录因子，参与黑素细胞发育和分化。它在黑素细胞向恶性黑素瘤转化过程中与BRAF突变合作。MITF的增殖活性似乎由Ink4a，RB1和CDK2介导，MITF具有由BCL2介导的抗细胞凋亡活性。MITF在> 15％的转移性黑素瘤中被扩增。MITF的胚系突变与Waardenburg和Tietz综合征相关，并且易患黑素瘤和肾细胞癌。
MITF encodes a transcription factor involved in melanocyte development and differentiation. Germline mutations of MITF are associated with Waardenburg and Tietz syndromes and predispose to melanomas and renal cell carcinomas.Microphtalmia assiciated transcription factor (MITF) is a master regulator of melanocyte lineage. MITF regulates proliferation and differentiation of neural crest melanocyte progenitor cells. It cooperates with BRAF mutations in the transformation process of melanocytes to malignant melanoma. MITF is amplified in >15% of metastatic melanoma. Its proliferative activity seems to be mediated by Ink4a, RB1 and CDK2 and MITF has anti-apoptotic acitvity mediated by BCL2.