MEN1
小结
MEN1是抑癌基因，编码蛋白预计是一种转录抑制因子，其参与调节细胞增殖，可以与细胞增殖中的关键蛋白相互作用，包括JunD，SMAD和S期激酶活化剂。MEN1胚系功能丧失突变与MEN1综合征相关，MEN1综合征是一种在垂体，甲状旁腺，肺和胰腺内分泌组织中引起肿瘤的疾病。MEN1的体细胞突变和缺失已经在多种散发性内分泌肿瘤，甲状腺肿瘤和胰腺神经内分泌肿瘤的子集中被鉴定出来。
MEN1 encodes a transcriptional repressor that regulates cell proliferation. Germline missense and truncating mutations of MEN1 are found in the dominantly inherited Multiple Endocrine Neoplasia syndrome, and somatic inactivating mutations are found in endocrine tumors such as pancreatic neuroendocrine tumors.MEN1 is a putative tumor suppressor gene that localizes to the nucleus. The function of MEN1 is not well-understood as MEN1 does not share sequence homology with any other known proteins. MEN1 interacts with multiple proteins that play critical roles in the regulation of cell proliferation, including JunD, SMAD, and activator of S-phase kinase. In addition, MEN1 binds several histone regulatory proteins and is predicted to be a transcriptional regulator. Germline loss-of-function mutations in MEN1 are associated with MEN1 syndrome, a disease that causes tumors in the pituitary, parathyroid, lung, and enteropancreatic endocrine tissues. Somatic mutations and deletions in MEN1 have been identified in a variety of sporadic endocrine tumors, thyroid tumors, and a subset of pancreatic neuroendocrine tumors.