Braf - Braf transforming gene Gene

中文名称：Braf转化基因

种属: Mus musculus

同用名: B-raf; Braf2; Braf-2; C230098H17; D6Ertd631e; 9930012E13Rik

关于 Braf

功能概要

该基因编码的蛋白可启动蛋白激酶活性。参与蛋白质磷酸化。作用于几个过程的上游或内部，包括造血或淋巴器官发育；细胞凋亡过程的负调控；和细胞成分组织的正向调节。位于多个细胞成分中，包括细胞体；线粒体；和神经元投射。以多种结构表达，包括消化系统；脑;泌尿生殖系统；淋巴系统腺体；以及肝脏和胆道系统。用于研究朗格汉斯细胞组织细胞增生症；心面皮肤综合征；黑色素瘤;和甲状腺乳头状癌。该基因的人类直系同源基因与多种疾病有关，包括努南综合征 7；癌（多发性）；心面皮肤综合征（多发性）；中枢神经系统良性肿瘤（多发性）；和黑色素瘤（多发）。人类 BRAF（B-Raf 原癌基因，丝氨酸/苏氨酸激酶）的直系同源物。 [由基因组资源联盟提供，2022 年 4 月]

Enables protein kinase activity. Involved in protein phosphorylation. Acts upstream of or within several processes, including hematopoietic or lymphoid organ development; negative regulation of apoptotic process; and positive regulation of cellular component organization. Located in several cellular components, including cell body; mitochondrion; and neuron projection. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system gland; and liver and biliary system. Used to study Langerhans-cell histiocytosis; cardiofaciocutaneous syndrome; melanoma; and thyroid gland papillary carcinoma. Human ortholog(s) of this gene implicated in several diseases, including Noonan syndrome 7; carcinoma (multiple); cardiofaciocutaneous syndrome (multiple); central nervous system benign neoplasm (multiple); and melanoma (multiple). Orthologous to human BRAF (B-Raf proto-oncogene, serine/threonine kinase). [provided by Alliance of Genome Resources, Apr 2022]