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Human EHMT1 wild-type allele is located in the vicinity of 9q34.3 and is approximately 139 kb in length. This allele, which encodes histone-lysine N-methyltransferase, H3 lysine-9 specific 5 protein, plays a role in the modulation of histone methylation. Mutation of the gene is associated with chromosome 9q subtelomeric deletion syndrome.
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