SNPs have been identified in the GNAS gene in a screening of autistic, OCD and ADHD patients (Kim et al., 2000). In addition, a rare mutation in the GNAS gene has been identified in an individual with ASD (Sanders et al., 2012).
The encoded protein has GTPase activity.
Type of Disorder
Deletion polymorphism in the coding region of the human NESP55 alternative transcript of GNAS1.