This gene encodes a member of the paired box 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.
Protein Aliases: HGNC:8622; Paired box protein Pax-8; paired domain gene 8
Gene Aliases: PAX8
UniProt ID: (Human) Q06710
Entrez Gene ID: (Human) 7849