PCDHB13 - protocadherin beta 13 Gene

中文名称：原钙粘蛋白 13

种属: Homo sapiens

同用名: PCDH-BETA13

关于 PCDHB13

功能概要

该基因是原钙粘蛋白β基因簇的成员，原钙粘蛋白β基因簇是在 5 号染色体上串联连接的三个相关基因簇之一。基因簇展示了一种不寻常的基因组组织，类似于 B 细胞和 T 细胞受体基因簇。 beta 簇包含 16 个基因和 3 个假基因，每个假基因编码 6 个细胞外钙粘蛋白结构域和一个与钙粘蛋白超家族中的其他结构域不同的细胞质尾部。细胞外结构域以同源方式相互作用以指定不同的细胞间连接。与 alpha 和 gamma 簇不同，这些基因的转录本仅由一个大外显子组成，而不是像预期的那样共享共同的 3' 外显子。这些神经钙粘蛋白样细胞粘附蛋白是完整的质膜蛋白。它们的具体功能未知，但它们很可能在特定细胞间神经连接的建立和功能中发挥关键作用。[RefSeq 提供，2008 年 7 月]

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular Cadherin domains and a cytoplasmic tail that deviates from Others in the Cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]