Article
Identification of SHANK2 Pathogenic Variants in a Chinese Uygur Population with Schizophrenia.
Journal of molecular neuroscience : MN - 1 Jan 2021
Zhang Han, Wang Dong, Chen Jianhua, Li Xiuli, Yi Qizhong, Shi Yongyong
Abstract excerpt
Genomic studies on schizophrenia (SCZ) have revealed several candidate genes involved in excitatory synapse function and plasticity associated with its etiology. SHANK2 is a postsynaptic scaffolding protein, which anchors a protein complex connecting NMDAR, AMPAR, and mGluR receptors at excitatory neuronal synapses. Mutations in the SHANK2 gene have been reported to be associated with human autism spectrum...
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