PRICKLE2 gene

prickle planar cell polarity protein 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]

From NCBI Gene:

  • Epilepsy, progressive myoclonic 5

From UniProt:

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.

Cytogenetic Location: 3p14.1, which is the short (p) arm of chromosome 3 at position 14.1

Molecular Location: base pairs 64,093,850 to 64,445,476 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p14.1, which is the short (p) arm of chromosome 3 at position 14.1