Rabbit PAX4 Polyclonal Antibody | anti-PAX4 antibody
PAX4 antibody - N-terminal region
Western Blot (WB)
(WB Suggested Anti-PAX4 Antibody Titration: 0.2-1 ug/mlELISA Titer: 1:1562500Positive Control: Human Stomach)
Target Description: PAX4 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 gene 4 is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing .- cells. 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. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because transcript sequence consistent with the reference genome assembly was not available for all regions of the RefSeq transcript. The extent of this transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.
NCBI and Uniprot Product Information
NCBI Description
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. [provided by RefSeq, Jul 2008]
Uniprot Description
PAX4: 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. Defects in PAX4 are a cause of noninsulin-dependent diabetes mellitus (NIDDM); also known as diabetes mellitus type 2 or maturity-onset diabetes. NIDDM is characterized by an autosomal dominant mode of inheritance, onset during adulthood and insulin resistance. Genetic variations in PAX4 are associated with susceptibility to insulin-dependent diabetes mellitus (IDDM). IDDM normally starts in childhood or adolescence and is caused by the body's own immune system which destroys the insulin-producing beta cells in the pancreas. Classical features are polydipsia, polyphagia and polyuria, due to hyperglycemia- induced osmotic diuresis. Defects in PAX4 are a cause of susceptibility to diabetes mellitus ketosis-prone (KPD). KPD is 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. Defects in PAX4 are the cause of maturity-onset diabetes of the young type 9 (MODY9). MODY is 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. Belongs to the paired homeobox family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 7q32.1
Cellular Component: nucleoplasm
Molecular Function: DNA binding
Biological Process: endocrine pancreas development; organ morphogenesis
Disease: Diabetes Mellitus, Ketosis-prone; Diabetes Mellitus, Noninsulin-dependent; Maturity-onset Diabetes Of The Young, Type 9
