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  • Human ITCH wild-type allele is located in the vicinity of 20q11.22 and is approximately 178 kb in length. This allele, which encodes E3 ubiquitin-protein ligase Itchy homolog protein, plays a role in the regulation of ubiquitinated protein degradation of inflammatory pathway proteins. Mutation of the gene is associated with multisystem autoimmune disease with facial dysmorphism (ADMFD).
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