菜单 基因医生

这个基因编码一个眼睛缺失(eya)蛋白质家族的成员。编码的蛋白质可能是翻译后修饰的,并且可能在眼睛发育中起作用小鼠体内的一种类似蛋白质可以作为转录激活物选择性剪接导致多个转录变体,但所有这些变体的全长性质尚未确定。[由RefSeq提供,2009年7月]
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]

基因名:EYA2
别名:EAB1
基因ID:2139
Chromosome:
(GRCh37)
20 Start: 45523263 End: 45817492 Strand: 
信号通路:  
EYA2 基因突变与药物