更多...
收起
The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein. This adaptor protein links membrane bound G-proteins to cytoplasmic effector proteins. This protein functions as an insulin receptor tyrosine kinase substrate and suggests a role for insulin in the central nervous system. It also associates with a downstream effector of Rho small G proteins, which is associated with the formation of stress fibers and cytokinesis. This protein is involved in lamellipodia and filopodia formation in motile cells and may affect neuronal growth-cone guidance. This protein has also been identified as interacting with the dentatorubral-pallidoluysian atrophy gene, which is associated with an autosomal dominant neurodegenerative disease. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jan 2009]
[中文简述(自动翻译):]  由该基因编码的蛋白质已被鉴定为一个脑特异性血管生成抑制剂(BAI1)结合蛋白。这个衔接蛋白链接膜结合G蛋白细胞质效应蛋白。这种蛋白质的功能作为胰岛素受体酪氨酸激酶底物,并提出了胰岛素在中枢神经系统中的作用。它还关联起来的Rho小G蛋白的下游效应,这是与应力纤维和胞质分裂的形成有关。这种蛋白质是参与在游动细胞片状伪足和丝足的形成,并可能影响神经元生长锥的指导。这种蛋白也被确定为与齿状苍白球萎缩基因,其与常染色体显性遗传的神经变性疾病相关的相互作用。在多个转录剪接变异体导致不同的编码亚型。[由RefSeq的,2009年1月提供]
BAIAP2基因(以及对应的蛋白质)的细胞分布位置:
BAIAP2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Attention deficit hyperactivity disorder | 0.002909916 | 2 | 0 | BeFree_GAD |
Carcinogenesis | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。