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FLASH GENE
Symbol PRICKLE1 contributors: mct/npt/shn - updated : 17-02-2014
HGNC name prickle homolog 1 (Drosophila)
HGNC id 17019
ASSOCIATED DISORDERS
corresponding disease(s) EPM1B
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation      
contribute to ASD by disrupting the interaction with SYN1 and regulation of synaptic vesicles
Susceptibility to neural tube defects (NTDs)
Variant & Polymorphism other
  • could act as a predisposing factor to human NTDs
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with Prickle1 mutations exhibit ASD-like behavior (PMID!