BRAF —— B-Raf原癌基因，丝氨酸/苏氨酸激酶

BRAF

B-Raf原癌基因，丝氨酸/苏氨酸激酶

B-Raf proto-oncogene, serine/threonine kinase

该基因编码属于丝氨酸/苏氨酸蛋白激酶的RAF家族的蛋白。该蛋白在调节MAP激酶/ ERK信号传导途径中起作用，影响细胞分裂，分化和分泌。该基因的突变（最常见的是V600E突变）是黑色素瘤中最常见的致癌突变，并且已在其他各种癌症中得到鉴定，包括非霍奇金淋巴瘤，结肠直肠癌，甲状腺癌，非小细胞癌肺癌，毛细胞白血病和肺腺癌。该基因的突变还与表现出重叠表型的心脏面部皮肤，Noonan和Costello综合征有关。该基因的假基因已在X染色体上鉴定。[由RefSeq提供，2017年8月]

This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]