PAK3(redirected from mental retardation, X-linked 47)
PAK3A gene on chromosome Xq23 that encodes a PAK protein of the serine/threonine p21-activating kinase family, which serve as targets for the small GTP-binding proteins Cdc42 and RAC and have been implicated in a wide range of biological activities. PAK3 forms an activated complex with GTP-bound RAS-like (P21, CDC2 and RAC1) proteins that then catalyses various targets; it may be necessary for dendritic development and for the rapid cytoskeletal reorganisation in the dendritic spines associated with synaptic plasticity.
PAK3 mutations cause non-syndromic mental retardation X-linked type 30/47 (MRX30/47).
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