Target intelligence / Profile preview

Paired box protein Pax-8 (PAX8) (PAX8)

Target
PAX8
Molecular classification
Transcription factor
01

Overview

Paired box protein Pax-8 (PAX8) is a nuclear transcription factor from the paired box (PAX) gene family, containing a paired box domain, octapeptide, and paired-type homeodomain. It plays a central role in embryonic development and tissue-specific differentiation, particularly in thyroid follicular cell development, kidney organogenesis, and Müllerian system formation. PAX8 regulates thyroid-specific genes (e.g., thyroglobulin, thyroperoxidase, sodium/iodide symporter) in cooperation with TTF-1/NKX2-1, promotes epithelial cell survival and proliferation via pathways involving tp53inp1 repression and E2F1 regulation, and is essential for thyroid morphogenesis where its absence leads to apoptosis of precursors. In cancer, PAX8 is overexpressed in thyroid, ovarian, renal, and other tumors, with PAX8-PPARγ fusions acting as oncogenes in follicular thyroid carcinomas; it also serves as a diagnostic immunohistochemical marker for these neoplasms due to its restricted nuclear expression

Other names
Pax8Paired box gene 8
02

Biological functions

Embryonic developmentThyroid follicular cell development and differentiationKidney organogenesisMüllerian system developmentCell survivalCell proliferationRegulation of thyroid-specific genes (e.g., thyroglobulin, thyroperoxidase, sodium/iodide symporter)
03

Disease associations

Cancer (thyroid follicular carcinomas, ovarian carcinoma, renal cell carcinoma, Wilms tumor, gliomas, bladder, pancreatic endocrine neoplasms)Congenital hypothyroidism due to thyroid dysgenesisCongenital anomalies of the kidney and urinary tract (CAKUT)
04

Biomarkers

PAX8 expression (diagnostic marker for thyroid, renal, and Müllerian neoplasms)PAX8-PPARγ fusion (marker in follicular thyroid carcinomas)

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