菜单 基因医生

该基因编码一个具有TBC(Tre-2/Bub2/CDC16)结构域的蛋白质一些具有此结构域的哺乳动物蛋白通过与特定rab蛋白结合并影响其gtpase活性而发挥rab间隙的功能。选择性剪接导致多个转录变体[由RefSeq提供,2011年9月]
This gene encodes a protein with a TBC (Tre-2/Bub2/CDC16) domain. Some mammalian proteins with this domain have been shown to function as Rab-GAPs by binding to specific Rab proteins and affecting their GTPase activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

基因名:TBC1D8B
别名:NPHS20,GRAMD8B
基因ID:54885
Chromosome:
(GRCh37)
X Start: 106045919 End: 106119380 Strand: 
信号通路:  
TBC1D8B 基因突变与药物