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:

Spinocerebellar ataxia with epilepsy (SCAE): An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases. [MIM:607459]

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