PAX8 est un gène codé par le symbole PAX8. Il est également connu sous le nom de Paired box protein Pax-8. PAX8 a une masse de 48.22kDa, une longueur d'acide aminé de 450, et est impliqué dans Hypothyroidism, congenital, non-goitrous, 2.
Nous proposons 41 des anticorps contre PAX8, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF, Cytométrie en Flux et IP avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells.
Résumé Entrez
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.
Spécificité tissulaire
Expressed in the excretory system, thyroid gland and Wilms tumors.
Implication dans la maladie
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.
Localisation cellulaire
Nucleus.
