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  • Human DOCK8 wild-type allele is located in the vicinity of 9p24.3 and is approximately 250 kb in length. This allele, which encodes dedicator of cytokinesis protein 8, may be involved in the activation of small GTPases. Variation in the gene is associated with autosomal recessive hyperimmunoglobulin E recurrent infection syndrome and disruption or deletion of the gene is associated with autosomal dominant mental retardation 2.
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