Two de novo variants in the ATP1A1 gene (one loss-of-function, one damaging missense) were identified in ASD probands in whole-exome sequencing studies (De Rubeis et al., 2014; Iossifov et al., 2014). De novo missense variants in the ATP1A1 gene that resulted in loss of Na+,K+-ATPase function and abnormal cation permeabilities were identified in three unrelated individuals presenting with generalized seizures in infancy, severe hypomagnesemia, renal magnesium wasting, and developmental delay/intellectual disability; one of these three individuals was diagnosed with severe autism, while another was suspected of having autism spectrum disorder (Schlingmann et al., 2018).
Molecular Function
The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
