MAGEE1 - MAGE family member E1 Gene

中文名称：MAGE 家族成员 E1

种属: Homo sapiens

同用名: HCA1; DAMAGE

关于 MAGEE1

功能概要

该基因编码 α-dystrobrevin 相关 MAGE (黑色素瘤相关抗原) 蛋白，它是 MAGE 家族的成员。该蛋白质在 N 末端包含核定位信号，从 nt 60 开始的 30 个 12 氨基酸重复序列具有共有序列 ASEGPSTSVLPT，在 C 末端包含两个 MAGE 结构域。它可能在大脑、肌肉和周围神经中发挥信号作用。该基因位于 X 染色体上的一个区域，该区域包含与认知障碍相关的位点。[RefSeq 提供，2010 年 3 月]

This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminus, 30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT, and two MAGE domains in the C-terminus. It may play a signaling role in brain, muscle, and peripheral nerve. This gene is located on X chromosome in a region containing loci linked to cognitive disability. [provided by RefSeq, Mar 2010]