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Description

Paired box protein Pax-8 (UniProt: Q06710, also known as PAX-8) is encoded by the Pax8 gene (Gene ID: 7849) in human. PAX-8 is a member of the paired box (PAX) family of transcription factors. PAX proteins are important regulators of organogenesis and act as key factors in maintaining pluripotency of stem cells during development. PAX-8 acts as a transcription factor for the thyroid-specific expression of the genes and is exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells. PAX-8 is shown to be crucial in determining cell fate during the development of the thyroid, kidney, brain, eyes, and Muellerian system. It also regulates the expression of the Wilms' tumor suppressor gene (WT1). PAX-8 is a shown to be a highly sensitive marker for thyroid, renal, Muellerian, and thymic tumors. However, lung adenocarcinomas, breast and adrenal neoplasms, and the majority of gastrointestinal tumors are reported to be negative for PAX-8. Mutations in Pax8 gene are known to cause congenital hypothyroidism that is characterized by thyroid dysgenesis and in some cases the thyroid gland can be completely absent, ectopically located and/or severely hypoplastic. Five isoforms of PAX-8 have been described that are produced by alternative splicing. (Ref.: Laury, AR et al. (2011). Am J Surg. Pathol. 35(6), 816-826, Xiang, L and Kong, B (2013). Oncol. Lett. 5(3), 735-738).