External Ids for PAX8 Gene
Previous GeneCards Identifiers for PAX8 Gene
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]
PAX8 is one of nine transcription factors within the PAX gene family. It has been observed to be expressed during embryonic development however expression attenuates after development in all but a few tissues. Research has indicated that over-expression of PAX proteins in general are not an initiating event in tumorgenesis however they may facilitate malignant development. PAX8 is expressed in 80-96% of all High-grade serous carcinomas (HGSC) and is commonly used as a marker for the disease. In addition PAX8 has become a useful biomarker for differentiating between mullerian mucinous and non-mullerian tumors. PAX8 has also been associated with neoplasms in the kidney and thyroid.
GeneCards Summary for PAX8 Gene
PAX8 (Paired Box 8) is a Protein Coding gene. Diseases associated with PAX8 include Hypothyroidism, Congenital, Nongoitrous, 2 and Athyreosis. Among its related pathways are Transcriptional misregulation in cancer and Human Thyroid Stimulating Hormone (TSH) signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is PAX5.
UniProtKB/Swiss-Prot for PAX8 Gene
Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.