PLEKHG4( Human )
pleckstrin homology and RhoGEF domain containing G4
Alias
ARHGEF44|PRTPHN1|SCA4
The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015].