Sodium–hydrogen Antiporter 1
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Sodium–hydrogen Antiporter 1
The sodium-hydrogen antiporter 1 (NHE-1) also known as sodium/hydrogen exchanger 1 or SLC9A1 (SoLute Carrier family 9A1) is an isoform of sodium–hydrogen antiporter that in humans is encoded by the ''SLC9A1'' gene. Function The Na+/H+ antiporter (SLC9A1) is a ubiquitous membrane-bound enzyme involved in volume- and pH-regulation of vertebrate cells. It is inhibited by the non-specific diuretic drug amiloride and activated by a variety of signals including growth factors, mitogens, neurotransmitters, tumor promoters, and others. Interactions Sodium–hydrogen antiporter 1 has been shown to interact with carbonic anhydrase II and CHP. It is also the target of the experimental drug rimeporide, which is being developed for the treatment of Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs ...
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Sodium–hydrogen Antiporter
The sodium–hydrogen antiporter or sodium–proton exchanger (Na+/H+ exchanger) is a membrane protein that transports Na+ into the cell, and H+ out of the cell ( antiport). Function They are found in the membranes of many cells, and especially in those of the nephron of the kidney, specifically in the intercalary cells of the collecting duct and in the epithelial cells of the proximal convoluted tubule. The membrane pump is primarily responsible for maintaining homeostasis of pH and sodium. Defects in Na+/H+ antiporters may result in heart or kidney failure. Angiotensin II upregulates this antiporter in the proximal convoluted tubule in order to promote Na+ reabsorption and H+ secretion. Na+/H+ exchangers are thought to be implicated in other disorders such as hypertension. In one study, transgenic mice over expressing this membrane protein were shown to have increased reabsorption and retention of sodium after increased salt intake. In dopamine receptor signalling, the wide ...
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Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ...
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Amiloride
Amiloride, sold under the trade name Midamor among others, is a medication typically used with other medications to treat high blood pressure or swelling due to heart failure or cirrhosis of the liver. Amiloride is classified as a potassium-sparing diuretic. Amiloride is often used together with another diuretic, such as a thiazide or loop diuretic. It is taken by mouth. Onset of action is about two hours and it lasts for about a day. Common side effects include high blood potassium, vomiting, loss of appetite, rash, and headache. The risk of high blood potassium is greater in those with kidney problems, diabetes, and those who are older. Amiloride blocks the epithelial sodium channel (ENaC) in the late distal tubule, connecting tubule, and collecting duct of the nephron, which both reduces absorption of sodium ion from the lumen of the nephron and reduces excretion of potassium ion into the lumen. Amiloride was developed in 1967. It is on the World Health Organization's Lis ...
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Growth Factor
A growth factor is a naturally occurring substance capable of stimulating cell proliferation, wound healing, and occasionally cellular differentiation. Usually it is a secreted protein or a steroid hormone. Growth factors are important for regulating a variety of cellular processes. Growth factors typically act as signaling molecules between cells. Examples are cytokines and hormones that bind to specific receptors on the surface of their target cells. They often promote cell differentiation and maturation, which varies between growth factors. For example, epidermal growth factor (EGF) enhances osteogenic differentiation, while fibroblast growth factors and vascular endothelial growth factors stimulate blood vessel differentiation (angiogenesis). Comparison to cytokines ''Growth factor'' is sometimes used interchangeably among scientists with the term ''cytokine.'' Historically, cytokines were associated with hematopoietic (blood and lymph forming) cells and immune syst ...
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Mitogen
A mitogen is a small bioactive protein or peptide that induces a cell to begin cell division, or enhances the rate of division (mitosis). Mitogenesis is the induction (triggering) of mitosis, typically via a mitogen. The mechanism of action of a mitogen is that it triggers signal transduction pathways involving mitogen-activated protein kinase (MAPK), leading to mitosis. The cell cycle Mitogens act primarily by influencing a set of proteins which are involved in the restriction of progression through the cell cycle. The G1 checkpoint is controlled most directly by mitogens: further cell cycle progression does not need mitogens to continue. The point where mitogens are no longer needed to move the cell cycle forward is called the "restriction point" and depends on cyclins to be passed.Bohmer et al. "Cytoskeletal Integrity Is Required throughout the Mitogen Stimulation Phase of the Cell Cycle and Mediates the Anchorage-dependent Expression of Cyclin DI". January 1996, Molecular ...
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Neurotransmitter
A neurotransmitter is a signaling molecule secreted by a neuron to affect another cell across a synapse. The cell receiving the signal, any main body part or target cell, may be another neuron, but could also be a gland or muscle cell. Neurotransmitters are released from synaptic vesicles into the synaptic cleft where they are able to interact with neurotransmitter receptors on the target cell. The neurotransmitter's effect on the target cell is determined by the receptor it binds. Many neurotransmitters are synthesized from simple and plentiful precursors such as amino acids, which are readily available and often require a small number of biosynthetic steps for conversion. Neurotransmitters are essential to the function of complex neural systems. The exact number of unique neurotransmitters in humans is unknown, but more than 100 have been identified. Common neurotransmitters include glutamate, GABA, acetylcholine, glycine and norepinephrine. Mechanism and cycle Synthes ...
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Tumor Promotion
Tumor promotion is a process in carcinogenesis by which various factors permit the descendants of a single initiated cell to survive and expand in number, i.e. to resist apoptosis and to undergo clonal growth. This is a step toward tumor progression. In order for a tumor cell to survive, it must decrease its expression of tumor suppressor genes such as p53, BRCA1, BRCA2, RB1, or the fas receptor. A tumor suppressor would trigger an apoptotic pathway in a cancer cell if there were DNA damage, polyploidy, or uncontrolled cell growth. Simultaneously, tumor cells need to upregulate oncogenes, which promote or cause downstream activation of growth factors and cell survival signals such as RAS, Mitogen-activated protein kinase kinase, VEGF, or Akt. See also * Phorbol myristate acetate * Tumor initiation * Tumor progression Tumor progression is the third and last phase in tumor development. This phase is characterised by increased growth speed and invasiveness of the tumor cells. ...
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Protein–protein Interaction
Protein–protein interactions (PPIs) are physical contacts of high specificity established between two or more protein molecules as a result of biochemical events steered by interactions that include electrostatic forces, hydrogen bonding and the hydrophobic effect. Many are physical contacts with molecular associations between chains that occur in a cell or in a living organism in a specific biomolecular context. Proteins rarely act alone as their functions tend to be regulated. Many molecular processes within a cell are carried out by molecular machines that are built from numerous protein components organized by their PPIs. These physiological interactions make up the so-called interactomics of the organism, while aberrant PPIs are the basis of multiple aggregation-related diseases, such as Creutzfeldt–Jakob and Alzheimer's diseases. PPIs have been studied with many methods and from different perspectives: biochemistry, quantum chemistry, molecular dynamics, signal trans ...
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Carbonic Anhydrase II
Carbonic anhydrase II (gene name CA2), is one of sixteen forms of human α carbonic anhydrases. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Renal carbonic anhydrase allows the reabsorption of bicarbonate ions in the proximal tubule. Loss of carbonic anhydrase activity in bones impairs the ability of osteoclasts to promote bone resorption, leading to osteopetrosis. Interactions Carbonic anhydrase II has been shown to interact with band 3 Band 3 anion transport protein, also known as anion exchanger 1 (AE1) or band 3 or solute carrier family 4 member 1 (SLC4A1), is a protein that is encoded by the gene in humans. Band 3 anion transport protein is a phylogenetically-preserved ... and sodium-hydrogen antiporter 1. References Further reading

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CHP (gene)
Calcineurin B homologous protein 1 is a protein encoded in humans by the ''CHP1'' gene (formerly ''CHP''). Function The protein encoded by this gene is a phosphoprotein that binds to the sodium-hydrogen exchangers (NHEs). This protein serves as an essential cofactor which supports the physiological activity of NHE family members. It has protein sequence similarity to calcineurin B and it is also known to be an endogenous inhibitor of calcineurin activity. Interactions Calcineurin B homologous protein 1 has been shown to interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ... with * sodium-hydrogen antiporter 1, * sodium-hydrogen antiporter 3, and * sodium-hydrogen anti porter 9. References Further reading * * * * * * * * * * * * * External links ...
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Rimeporide
Rimeporide is an experimental drug for the treatment of Duchenne muscular dystrophy, being developed by the EspeRare foundation. it has been granted orphan drug status by the European Medicines Agency. Mechanism of action The substance blocks an ion pump called sodium–hydrogen antiporter 1. While the exact mechanism is unknown, it is speculated that inhibition of this pump reduces pH, sodium and calcium overload in cells of patients with Duchenne muscular dystrophy. History Rimeporide was designed as a treatment for chronic heart failure. It was tested in seven Phase I studies clinical trials in patients with congestive heart failure and some degree of renal insufficiency. Subsequently, the drug was licensed to EspeRare, a Swiss nonprofit organisation that aims at repositioning drugs for rare diseases. , the substance has demonstrated efficacy in several animal models of Duchenne muscular dystrophy. It has also been recently tested in young boys with Duchenne muscular Dystroph ...
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Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms. The disorder is X-linked recessive. About two thirds of cases are inherited from a person's mother, while one third of cases are due to a new mutation. It is caused by a mutation in the gene for the protein dystrophin. Dystrophin is important to maintain the muscle fiber's cell membrane. Genetic testing can often make the diagnosis at birth. Those affected also have a high level of creatine kinase in their blood. Although there is no know ...
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