BRAF

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]

本基因编码一种属于丝氨酸/苏氨酸蛋白激酶的 RAF 家族蛋白。该蛋白在调节 MAP 激酶/ERK 信号通路中发挥作用，该通路影响细胞分裂、分化和分泌。此基因中的突变，尤其是最常见的 V600E 突变，是黑色素瘤中最常识别的致癌突变，亦已在多种其他癌症中检测到，包括非霍奇金淋巴瘤、结直肠癌、甲状腺癌、非小细胞肺癌、毛细胞白血病和肺腺癌。此基因的突变还与 cardiofaciocutaneous、Noonan 和 Costello 综合征相关，这些综合征表现出重叠的表型。该基因的假基因已在 X 染色体上被识别。[由 RefSeq 提供，2017 年 8 月]