Aliases for PLEKHG4 Gene
External Ids for PLEKHG4 Gene
Previous HGNC Symbols for PLEKHG4 Gene
Previous GeneCards Identifiers for PLEKHG4 Gene
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]
GeneCards Summary for PLEKHG4 Gene
PLEKHG4 (Pleckstrin Homology And RhoGEF Domain Containing G4) is a Protein Coding gene. Diseases associated with PLEKHG4 include spinocerebellar ataxia 4 and cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3. GO annotations related to this gene include Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF40.
UniProtKB/Swiss-Prot for PLEKHG4 Gene
Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.