PRICKLE2
Description
The PRICKLE2 (prickle planar cell polarity protein 2) is a protein-coding gene located on chromosome 3.
Prickle2 is a protein involved in cell signaling and tissue development. It interacts with the Wnt signaling pathway, a critical pathway in embryonic development and tissue maintenance.
Prickle2 is a protein that plays a crucial role in cell signaling pathways involved in tissue development and patterning. It acts as a regulator of the Wnt signaling pathway, a critical pathway involved in embryonic development and adult tissue maintenance. Prickle2 interacts with other proteins in this pathway, affecting the signaling cascade and ultimately influencing the expression of specific genes.
PRICKLE2 is also known as EPM5.
Associated Diseases
- sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- autosomal dominant non-syndromic intellectual disability
- childhood epilepsy with centrotemporal spikes