The protein encoded by this gene is a Rho-like GTPase that switches between the active (GTP-bound) state and inactive (GDP-bound) state to regulate CDC42 and other genes. Defects in this gene are a cause of startle disease with epilepsy (STHEE), also known as hyperekplexia with epilepsy. Three transcript variants encoding different isoforms have been found for this gene.
应用类型
IF,IHC,WB
免疫原
Recombinant fusion protein containing a sequence corresponding to amino acids 307-516 of human ARHGEF9 (NP_056000.1).
