Gene Symbol | PLEKHG4 |
Entrez Gene ID | 25894 |
Full Name | pleckstrin homology and RhoGEF domain containing G4 |
Synonyms | ARHGEF44,PRTPHN1,SCA4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jan 2015]. |
Disorder MIM: |