Overview

Paired box 8 (PAX8) is a gene that encodes a protein that is a transcription factor involved in thyroid follicular cell development and expression of thyroid-specific genes. Missense mutations, silent mutations, nonsense mutations, and frameshift deletions are observed in cancers such as skin cancer, colon cancer, and endometrial cancer.

Significance of PAX8 in Diseases

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.