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。细胞外结构域由5个亚结构域组成，每个亚结构域都包含一个钙粘蛋白基序，似乎决定了该蛋白的嗜同细胞粘附活性的特异性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主要在大脑中表达，可能参与突触粘连、轴突生长和引导。该基因突变可能与人类肺鳞癌和结直肠癌有关。[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. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. 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 is predominantly expressed in brain and is putatively involved in synaptic adhesions, axon outgrowth and guidance. Mutations in this gene may be associated with lung squamous cell carcinoma and colorectal cancer in human patients. [provided by RefSeq, Nov 2015]