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  • Human CDKL5 wild-type allele is located in the vicinity of Xp22 and is approximately 228 kb in length. This allele, which encodes cyclin-dependent kinase-like 5 protein, is involved in the mediation of protein phosphorylation. Translocations and mutations involving the gene are associated with X-linked infantile spasm syndrome 2. Rett syndrome also is associated with defects in the gene.
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