Rabbit anti-Human PRICKLE2 Polyclonal Antibody | anti-PRICKLE2 antibody
PRICKLE2 Antibody
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
PRICKLE2: Defects in PRICKLE2 are the cause of progressive myoclonic epilepsy type 5 (EPM5). EPM5 is a neurodegenerative disorder characterized by myoclonic seizures and variable neurologic symptoms including cognitive decline and persistent movement abnormalities. Belongs to the prickle / espinas / testin family.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 3p14.1
Cellular Component: cytoplasm
Disease: Epilepsy, Progressive Myoclonic 5