The PRICKLE1 gene (in chromosome 12q12) encodes a nuclear membrane receptor called prickle homolog 1 (Pk). This protein is likely a regulator of the Wnt noncanonical planar cell polarity (PCP) pathway, being implicated in the nuclear trafficking of the transcription repressors REST (RE-1 silencing transcription factor)/NRSF (neuron-restrictive silencer factor) and REST4. The Wnt/PCP pathway is crucial in the regulation of gastrulation movements and neurulation and in particular Pk is thought to be essential for organ formation and proper function of the primary cilia. A primary cilium is a hair-like structure that protrudes from the cell surface which sense and transduce many extracellular signals to influence processes, such as cell proliferation and polarity and neuronal growth during embryonic development. Disorders of these cellular structures are associated with a large variety of manifestations that often include distinctive neurological findings, such as in PRICKLE1-related conditions.
The PRICKLE1 gene is also known as EPM1B (Epilepsy Progressive Myoclonic 1B), FLJ31937, REST/NRSF-interacting LIM domain protein, or RILP.
PRICKLE1