Purkinje cell protein 2 (PCP2) (PCP2)

Purkinje cell protein 2 (PCP2), commonly referred to as L7, is a signaling modulator primarily expressed in the Purkinje cells of the cerebellum and retinal ON bipolar cells. It functions as a regulator of G-protein signaling, specifically interacting with G-alpha-o and G-alpha-i subunits to modulate their nucleotide exchange and dissociation. In the cerebellum, PCP2 plays a critical role in motor coordination and learning by influencing synaptic plasticity, such as long-term depression (LTD) at parallel fiber-Purkinje cell synapses. Dysregulation or deficiency of PCP2 is associated with cerebellar ataxia and has been implicated in the pathophysiology of neurodevelopmental disorders like Fragile X syndrome. While not currently a primary target for approved small-molecule drugs, it is a significant target in neuroscience research for cell-specific genetic manipulation and potential gene therapy strategies for cerebellar disorders.

Other names

L7GPSM4Purkinje cell-specific protein L7G-protein signaling modulator 4

Acts as a cell-type specific modulator for G protein-mediated cell signaling, functioning as a guanine nucleotide dissociation inhibitor (GDI) or guanine nucleotide exchange factor (GEF) for G-alpha-o and G-alpha-i subunits.