PAX4 ist ein Gen, das durch das Symbol PAX4 kodiert wird. Es ist auch bekannt als Paired box protein Pax-4. PAX4 hat eine Masse von 37.83kDa, eine Aminosäurelänge von 350, und ist an folgenden Krankheiten beteiligt: Diabetes mellitus, non-insulin-dependent; Diabetes mellitus, insulin-dependent; Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young 9.
Wir bieten 12 antikörper gegen PAX4, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA and IP mit Proben abgeleitet von Human und Maus.
Gen- und Proteininformationen
UniProt Zusammenfassung
Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity.
Entrez Zusammenfassung
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells.
Rolle bei Krankheiten
Diabetes mellitus, non-insulin-dependent: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Diabetes mellitus, insulin-dependent: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Diabetes mellitus, ketosis-prone: An atypical form of diabetes mellitus characterized by an acute initial presentation with severe hyperglycemia and ketosis, as seen in classic type 1 diabetes, but after initiation of insulin therapy, prolonged remission is often possible with cessation of insulin therapy and maintenance of appropriate metabolic control. Metabolic studies show a markedly blunted insulin secretory response to glucose, partially reversible with the improvement of blood glucose control. Variable levels of insulin resistance are observed, especially in obese patients. Pancreatic beta-cell autoimmunity is a rare finding.
Maturity-onset diabetes of the young 9: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Sequenzähnlichkeiten
Belongs to the paired homeobox family.
