sik1 encodes a salt-inducible kinase, which is a serine/threonine protein kinase. this protein regulates left-right asymmetry patterning during early embryogenesis by acting downstream of the planar ce...[+]

sik1 encodes a salt-inducible kinase, which is a serine/threonine protein kinase. this protein regulates left-right asymmetry patterning during early embryogenesis by acting downstream of the planar cell polarity pathway in the neural tube and somites to control the biased cell movements of asymmetric morphogenesis. it is involved in neural crest formation. sik1 mRNA expression is detected in the anterior neural fold, eye, brain, branchial arches, otic vesicle, and spinal cord. the protein localizes to the nucleus and cytoplasm. [-]

             early infantile epileptic encephalopathy
             early myoclonic encephalopathy

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