PAX4 cdna clone
PAX4 cDNA Clone
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: Transcription factor; DNA-binding
Chromosomal Location of Human Ortholog: 7q32
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
Research Articles on PAX4
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Product Notes
The PAX4 pax4 (Catalog #AAA1278886) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGGCCTGGT CCAGTAAGTC TTGGCTTTGT CTTATAGCCT CCTCCTGTCC CAGGGACACT CTCCTTCCTT CTGCCCATCA TGCCTCACCT GTCCCTGCTT CTCACCTGAC TCAGGTATCT AATGGCTGTG TGAGCAAGAT CCTAGGGCGT TACTACCGCA CAGGTGTCTT GGAGCCAAAG GGCATTGGGG GAAGCAAGCC ACGGCTGGCT ACACCCCCTG TGGTGGCTCG AATTGCCCAG CTGAAGGGTG AGTGTCCAGC CCTCTTTGCC TGGGAAATCC AACGCCAGCT TTGTGCTGAA GGGCTTTGCA CCCAGGACAA GACTCCCAGT GTCTCCTCCA TCAACCGAGT CCTGCGGGCA TTACAGGAGG ACCAGGGACT ACCGTGCACA CGGCTCAGGT CACCAGCTGT TTTGGCTCCA GCTGTCCTCA CTCCCCATAG TGGCTCTGAG ACTCCCCGGG GTACCCACCC AGGGACCGGC CACCGGAATC GGACTATCTT CTCCCCAAGC CAAGCAGAGG CACTGGAGAA AGAGTTCCAG CGTGGGCAGT ATCCTGATTC AGTGGCCCGT GGAAAGCTGG CTACTGCCAC CTCTCTGCCT GAGGACACGG TGAGGGTCTG GTTTTCCAAC AGAAGAGCCA AATGGCGTCG GCAAGAGAAG CTCAAGTGGG AAATGCAGCT GCCAGGTGCT TCCCAGGGGC TGACTGTACC AAGGGTTGCC CCAGGAATCA TCTCTGCACA GGGCCCCACA GTGTTCATGT CAAGAAAGTA CTAA. It is sometimes possible for the material contained within the vial of "PAX4, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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