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GENATLAS PHENOTYPE |
last update : 30-06-2012 |
Symbol | AUTSX1 |
Location | Xq13 |
Name | autism spectrum disorder, X-linked 1 |
Corresponding gene | NLGN3 |
Main clinical features |
|
Genetic determination | sex linked |
Function/system disorder | psychiatry disorder |
Type | disease |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| various types
|  
| abnormal protein/gain of function
| mutation associated to change in the inhibitory/excitatory balance contributes to the pathogenesis of autism spectrum disorder
| |
Remark(s) | . NL3R451C mutation that was associated with highly penetrant autism in a Swedish family , and alters synaptic function in a circuit-dependent manner |