In a genome-wide association study of 2165 participants from the Autism Genetic Resource Exchange (AGRE) performed to examine associations between genomic loci and endophenotypes associated with ASDs, it was shown that item 27 ("association of loss of motor, self-help, play, social, or movement skills with physical illness") on the Autism Diagnostic Interview-Revised (ADIR ) is significantly associated with the BIN1 gene (Connolly et al., 2012).
Molecular Function
This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin.
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References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
