Gene: PLEKHG4

Alternate names for this Gene: ARHGEF44|PRTPHN1|SCA4

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.1

Description of this Gene: pleckstrin homology and RhoGEF domain containing G4

Type of Gene: protein-coding