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]
GeneCards Summary for PAX8 Gene
PAX8 (Paired Box 8) is a Protein Coding gene. Diseases associated with PAX8 include hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia and athyreosis. Among its related pathways are Pathways in cancer and Transcriptional misregulation in cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter sequence-specific DNA binding. An important paralog of this gene is PAX4.
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