Ubiquitin

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Ubiquitin pathway (UBE3A, PARK2, RFWD2 and FBXO40)

The genes UBE3A, PARK2, RFWD2 and FBXO40 are a part of the Ubiquitin pathway and have been implicated as genes that may possibly confer susceptibility to ASD through genome wide CNV association studies. Ubiquitination is a post-translational modification that can alter protein function and target proteins for proteosome degradation. This system can regulate synaptic attributes, including neurotransmitter release, synaptic vesicle recycling in pre-synaptic terminals, dynamic changes in dendritic spines, and post-synaptic density.

UBE3A a ubiquitin protein ligase
PARK2 ubiquitin-protein ligase
RFWD2 ubiquitin-protein ligase
FBXO40 ubiquitin-protein ligase