Prickle-like protein 2
Involvement in disease
PRICKLE2 mutations have been found in patients with myoclonic epilepsy but involvement of this gene in pathogenesis is under debate since some of the patients also carry POLG mutations.
Sequence Similarities
Belongs to the prickle / espinas / testin family.
Tissue Specificity
Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors.
Cellular localization
- Nucleus membrane
Alternative names
Prickle-like protein 2, PRICKLE2