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Overview
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RSK2 is a member of the RSK (ribosomal S6 kinase) family that are growth factor-regulated serine/threonine kinases. RSK2 has been shown to mediate growth factor signaling via RAS and MAPK leading to the induction of CREB serine-133 phosphorylation and activation of gene expression. Mutations in RSK2 have been shown to be responsible for Coffin-Lowry syndrome (CLS) which is a X-linked disorder characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal deformations.
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Overview