Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.
Expressed in the excretory system, thyroid gland and Wilms tumors.
Involvement in disease
Defects in PAX8 are the cause of congenital hypothyroidism non-goitrous type 2 (CHNG2) [MIM:218700]. CHNG2 is a disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.
Contains 1 paired domain.
In developing excretory system, during thyroid differentiation and in adult thyroid.