PLEKHG4, Official Symbol PLEKHG4provided by HGNC Official Full Name pleckstrin homology and RhoGEF domain containing G4provided by HGNC Primary source HGNC:HGNC:24501 See related Ensembl:ENSG00000196155 MIM:609526; AllianceGenome:HGNC:24501 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SCA4; PRTPHN1; ARHGEF44 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] Expression Broad expression in testis (RPKM 20.1), ovary (RPKM 10.4) and 18 other tissues See more Orthologs mouse all