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Human TPO wild-type allele is located within 2p25 and is approximately 129 kb in length. This allele, which encodes thyroid peroxidase protein, plays a role in biosynthesis of thyroxine and triiodothyronine. Heritable polymorphisms in the TPO gene commonly result in total iodine organification defect which, in turn, causes severe congenital hypothyroidism.
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