PAX8 ist ein Gen, das durch das Symbol PAX8 kodiert wird. Es ist auch bekannt als Paired box protein Pax-8. PAX8 hat eine Masse von 48.22kDa, eine Aminosäurelänge von 450, und ist an Hypothyroidism, congenital, non-goitrous, 2 beteiligt.
Wir bieten 41 antikörper gegen PAX8, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF, FC and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.
Entrez Zusammenfassung
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.
Gewebespezifität
Expressed in the excretory system, thyroid gland and Wilms tumors.
Rolle bei Krankheiten
Hypothyroidism, congenital, non-goitrous, 2: A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.
