菜单 基因医生

这个基因编码一种含有多个螺旋酶家族结构域的蛋白质。在一些荷电综合征患者中发现了这种基因的突变已经发现了两个编码不同亚型的转录变体。[由RefSeq提供,2015年10月]
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

基因名:CHD7
别名:CRG,HH5,IS3,KAL5
基因ID:55636
Chromosome:
(GRCh37)
8 Start: 61591321 End: 61780587 Strand: 
信号通路:  
CHD7 基因突变与药物