MAGEA2 - MAGE family member A2 Gene

中文名称：MAGE 家族成员 A2

种属: Homo sapiens

同用名: CT1.2; MAGE2; MAGEA2A

关于 MAGEA2

功能概要

该基因是 MAGEA 基因家族的成员。这个家族的成员编码的蛋白质彼此之间有 50% 到 80% 的序列同一性。 MAGEA 基因的启动子和第一个外显子显示出相当大的变异性，表明该基因家族的存在使得相同的功能能够在不同的转录控制下表达。 MAGEA 基因聚集在染色体位置 Xq28。它们与某些遗传性疾病有关，例如先天性角化不良。该基因在不同位点有两个相同的拷贝。已经为该基因鉴定了编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供，2008 年 7 月]

This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each Other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]