菜单 基因医生

该基因编码转录因子4，一种基本的螺旋环螺旋转录因子。编码的蛋白质识别一个以法鲁西盒（e-box）结合位点（canntg），这是免疫球蛋白增强剂中首次发现的一个基序。该基因广泛表达，可能在神经系统发育中起重要作用。这个基因的缺陷是导致皮特-霍普金斯综合征的一个原因。此外，内含子ctg重复序列通常为10-37个重复单元，可扩展到50个重复单元，并导致fuchs内皮性角膜营养不良。已经描述了编码不同蛋白质的多个选择性剪接转录变体。[由RefSeq提供，2016年7月]
This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]