🧬 基因注释:MAGEE1
📝 官方信息
官方名称:MAGE family member E1
功能摘要: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].
🎯 作为靶基因的剪接因子
🏥 关联疾病
该基因暂无关联疾病记录