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  • Human HERC2 wild-type allele is located in the vicinity of 15q13 and is approximately 211 kb in length. This allele, which encodes E3 ubiquitin-protein ligase HERC2 protein, plays a role in the modulation of both DNA repair and protein ubiquitination. Variation in the gene defines the skin/hair/eye pigmentation variation locus 1, and mutation of the gene is associated with autosomal recessive mental retardation 38.
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