PCDHA4 - protocadherin alpha 4 Gene

中文名称：原钙粘蛋白α 4

种属: Homo sapiens

同用名: CNR1; CNRN1; CRNR1; PCDH-ALPHA4

关于 PCDHA4

功能概要

该基因是原钙粘蛋白 alpha 基因簇的成员，原钙粘蛋白 alpha 基因簇是串联连接在 5 号染色体上的三个相关基因簇之一，显示出与 B 细胞和 T 细胞受体基因簇相似的不寻常的基因组组织。 α基因簇由 15 个与小鼠 CNR 基因相关的钙粘蛋白超家族基因组成，由 13 个高度相似和 2 个更远相关的编码序列组成。 15 个 N 末端外显子或可变外显子的串联阵列之后是下游 C 末端外显子或恒定外显子，它们由簇中的所有基因共享。大的、不间断的 N 端外显子各自编码六个钙粘蛋白胞外域，而 C 端外显子编码细胞质结构域。这些神经钙粘蛋白样细胞粘附蛋白是完整的质膜蛋白，很可能在大脑中特定细胞-细胞连接的建立和功能中发挥关键作用。已观察到选择性剪接并提出了其他变体，但它们的全长性质尚未确定。[RefSeq 提供，2008 年 7 月]

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]