PCDHGA1 - protocadherin gamma subfamily A, 1 Gene

中文名称：原钙粘蛋白伽玛亚科 A，1

种属: Homo sapiens

同用名: PCDH-GAMMA-A1

关于 PCDHGA1

功能概要

该基因是原钙粘蛋白伽玛基因簇的成员，原钙粘蛋白伽马基因簇是在 5 号染色体上串联连接的三个相关簇之一。这些基因簇具有免疫球蛋白样组织，表明它们的调控和表达可能涉及一种新机制。伽马基因簇包括 22 个基因，分为 3 个亚家族。亚科 A 包含 12 个基因，亚科 B 包含 7 个基因和 2 个假基因，关系较远的亚科 C 包含 3 个基因。 22 个大型可变区外显子的串联阵列后面是一个恒定区，包含簇中所有基因共享的 3 个外显子。每个可变区外显子编码胞外区，其中包括 6 个钙粘蛋白胞外域和一个跨膜区。恒定区外显子编码共同的细胞质区。这些神经钙粘蛋白样细胞粘附蛋白很可能在大脑中特定细胞间连接的建立和功能中发挥关键作用。选择性剪接已被描述为伽马簇基因。[RefSeq 提供，2008 年 7 月]

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 Cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]