Symbol
| PRICKLE1
| contributors: mct/npt/shn - updated : 17-02-2014
|
HGNC name
| prickle homolog 1 (Drosophila)
|
HGNC id
| 17019
|
corresponding disease(s)
|
EPM1B
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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
| | | |
| mice with Prickle1 mutations exhibit ASD-like behavior (PMID! |