This gene encodes a member of the paired box (PAX) family of transcription factors. Members of this gene family typically encode proteins that contain a paired box domain, an octapeptide, and a paired-type homeodomain. This nuclear protein is involved in thyroid follicular cell development and expression of thyroid-specific genes. Mutations in this gene have been associated with thyroid dysgenesis, thyroid follicular carcinomas and atypical follicular thyroid adenomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010],caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,developmental stage:In developing excretory system, during thyroid differentiation and in adult thyroid.,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.,function:Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.,similarity:Contains 1 paired domain.,tissue specificity:Expressed in the excretory system, thyroid gland and Wilms tumors.,
