Puratrophin-1 (PLEKHG4)

Puratrophin-1 (PLEKHG4) is a protein encoded by the PLEKHG4 gene in humans and is characterized by the presence of a pleckstrin homology (PH) domain and a Rho guanine nucleotide exchange factor (RhoGEF) domain[7][4][1]. It functions as a bona fide guanine nucleotide exchange factor (GEF) for small GTPases, including Rac1, Cdc42, and RhoA, thereby facilitating their activation and regulating downstream cell signaling processes, particularly those involved in actin cytoskeleton dynamics and intracellular signal transduction[1][4][5][2]. PLEKHG4 expression is especially pronounced in cerebellar Purkinje neurons and is also detected in kidney, testis, pancreas, and other tissues[2][5]. Mutations or polymorphisms in the PLEKHG4 gene are associated with autosomal dominant spinocerebellar ataxia (SCA4), a form of hereditary neurodegenerative disease with cerebellar involvement; it is also referenced in studies of other neurological and possibly infectious diseases[1][4][6]. No drugs are currently known to specifically target PLEKHG4, nor are there defined biomarkers or safety concerns directly linked to manipulating its activity.

Other names

Puratrophin-1PLEKHG4PRTPHN1ARHGEF44Pleckstrin homology and RhoGEF domain containing G4PH domain-containing family G member 4Purkinje cell atrophy-associated protein 1SCA4