NCIt definition : 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.;