CDH12 - cadherin 12 Gene

中文名称：钙粘蛋白 12

种属: Homo sapiens

同用名: CDHB

关于 CDH12

功能概要

该基因编码钙粘蛋白超家族的 II 型经典钙粘蛋白。该基因的可变剪接导致多个转录变体。这些变体中至少有一个编码一种前原蛋白，该蛋白经过蛋白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 末端细胞外结构域、一个跨膜结构域和一个小的、高度保守的 C 末端胞质结构域组成。 II 型 (非典型) 钙粘蛋白是根据它们缺乏 I 型钙粘蛋白特有的组氨酸-丙氨酸-缬氨酸 (HAV) 细胞粘附识别序列来定义的。这种特殊的钙粘蛋白似乎在大脑中专门表达，其表达的时间模式与神经元发育关键时期的作用一致，可能特别是在突触发生期间。[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]