UNC80

The protein serves as a bridge component and Src kinase scaffold in voltage-independent sodium leak channel complexes that establish and maintain neuronal resting membrane potentials. Biallelic mutations cause hypotonia, infantile, with psychomotor retardation and characteristic facies 2, an autosomal recessive disorder presenting with congenital infantile encephalopathy, intellectual disability, and growth issues. The pathogenic mechanism involves disruption of neuronal membrane potential regulation through impaired leak channel function.