BIOCHEMICAL CHARACTERIZATION OF THE MINIBRAIN GENE

小脑基因的生化特征

• 批准号: 2677047
• 负责人: YU-WEN HWANG
• 金额: $ 8.15万
• 依托单位: INSTITUTE FOR BASIC RES IN DEV DISABIL
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-03-01 至 2000-02-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2677047
• 关键词: Downs syndrome; chromosome 21; dynamin; enzyme activity; genetic disorder; guanosinetriphosphatases; isozymes; phosphorylation; protein kinase; protein purification; protein sequence; trisomy; yeast two hybrid system

DESCRIPTION (Adapted from applicant's description): The minibrain (Mnb) gene is located in the Down syndrome critical region of human chromosome 21. Evidence suggests that an elevated Mnb gene dosage, as in trisomy 21, contributes to Down syndrome phenotypes. The Mnb gene encodes a dual specificity tyrosine phosphorylation regulated kinase (DYRK) whose function in mammalian cells is currently unknown. The investigators plan to elucidate the cellular role of the Mnb kinase by identifying and characterizing substrates of this kinase as well as proteins that modulate its activity.

描述(改编自申请者的描述)：迷你大脑(MNB) 该基因位于人类21号染色体的唐氏综合症临界区。 有证据表明，MNB基因剂量增加，如在21三体中， 对唐氏综合症的表型有贡献。MNB基因编码一个双重的 特异性酪氨酸磷酸化调节激酶(Dyrk)的功能 在哺乳动物细胞中的作用目前尚不清楚。调查人员计划 通过鉴定和鉴定MNB激酶在细胞中的作用 表征这种激酶的底物以及调节 它的活动。