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  • Human PAX8 wild-type allele is located in the vicinity of 2q13 and is approximately 63 kb in length. This allele, which encodes paired box protein Pax-8, plays a role in the regulation of thyroid-specific gene transcription. Mutation of the gene is associated with congenital hypothyroidism non-goitrous type 2, thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. A chromosomal translocation t(2;3)(q13;p25) of this gene and the PPARG gene is associated with a subset of human thyroid follicular carcinomas.
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