Relevance to Autism

Variants in the SIK1 gene were identified in six unrelated individuals presenting with developmental epilepsies; three subjects presenting with infantile spasms subsequently developed intractable epilepsy and an autism plus developmental disorder with absent speech, impaired socialization, and repetitive behaviors (Hansen et al., 2015).

Molecular Function

This gene encodes a serine/threonine-protein kinase involved in various processes such as cell cycle regulation, gluconeogenesis and lipogenesis regulation, muscle growth and differentiation and tumor suppression. It plays several roles in the central nervous system including regulation of the circadian clock (Jagannath et al., 2013) and transcription of corticotropin-releasing hormone in the hypothalamus (Liu et al., 2012).

External Links

References