菜单 基因医生

该基因编码钙粘蛋白超家族的ii型经典钙粘蛋白。该基因的选择性剪接导致多个转录变体。这些变体中至少有一个编码蛋白前体,该蛋白经蛋白质水解处理后生成成熟的钙粘蛋白。这些完整的膜蛋白介导钙依赖性细胞粘附,由一个大的n端胞外结构域、一个单一的跨膜结构域和一个小的高度保守的c端胞质结构域组成。i i型(非典型)钙粘蛋白的定义是基于其缺乏一种特定于i型钙粘蛋白的组氨酸-丙氨酸-缬氨酸(hav)细胞粘附识别序列。这种特殊的钙粘蛋白似乎在大脑中有特异性的表达,其表达的时间模式将与神经元发育的关键时期的作用相一致,特别是在突触形成期间[由RefSeq提供,2015年11月]
This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]

基因名:CDH12
别名:CDHB
基因ID:1010
Chromosome:
(GRCh37)
5 Start: 21750870 End: 22853731 Strand: 
信号通路:  
CDH12 基因突变与药物