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.
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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