PAX8 è un gene codificato dal simbolo PAX8. È noto anche come Paired box protein Pax-8. PAX8 ha una massa di 48.22kDa, una lunghezza di amminoacidi di 450, ed è implicato in Hypothyroidism, congenital, non-goitrous, 2.
Offriamo 41 anticorpi contro PAX8, allevati nel Coniglio, Topo e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF, Citometria a Flusso e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Expressed in the excretory system, thyroid gland and Wilms tumors.
Coinvolgimento nella malattia
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.
Posizione cellulare
Nucleus.
