The Function of 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.
Protein names
Recommended name:
Paired box protein Pax-4- RS10229583 (PAX4) ??
- RS2233578 (PAX4) ??
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Top Gene-Substance Interactions
Substances That Increase PAX4
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Substances That Decrease PAX4
Substances | Interaction | Organism | Category |
Advanced Summary
From NCBI Gene: Diabetes mellitus, ketosis-proneDiabetes mellitus type 2Maturity-onset diabetes of the young, type 9From UniProt: Diabetes mellitus, ketosis-prone (KPD): 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. [MIM:612227] Diabetes mellitus, non-insulin-dependent (NIDDM): 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. [MIM:125853] Diabetes mellitus, insulin-dependent (IDDM): 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. [MIM:222100] Maturity-onset diabetes of the young 9 (MODY9): 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. [MIM:612225]
From NCBI Gene: 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] From UniProt: 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.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Molecular Function:
- Dna Binding
- Rna Polymerase Ii Distal Enhancer Sequence-Specific Dna Binding
- Transcriptional Repressor Activity, Rna Polymerase Ii Distal Enhancer Sequence-Specific Binding
Biological Processes:
- Animal Organ Morphogenesis
- Cell Differentiation
- Circadian Rhythm
- Endocrine Pancreas Development
- Negative Regulation Of Apoptotic Process
- Positive Regulation Of Cell Differentiation
- Response To Camp
- Retina Development In Camera-Type Eye
- Transcription, Dna-Templated