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ATP1A2
Sodium/potassium-transporting ATPase subunit alpha-2 is a protein which in humans is encoded by the ''ATP1A2'' gene. Function The protein encoded by this gene belongs to the family of P-type cation transport ATPases and to the subfamily of Na+/K+-ATPases. Na+/K+-ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+-ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Clinical significance Mutations in ''ATP1A2'' have been found to cause hemiplegic migraine and epilepsy in an autosomal dominant fashion, sometimes co-occu ...
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Sodium–potassium Pump
The sodium–potassium pump (sodium–potassium adenosine triphosphatase, also known as -ATPase, pump, or sodium–potassium ATPase) is an enzyme (an electrogenic transmembrane ATPase) found in the membrane of all animal cells. It performs several functions in cell physiology. The -ATPase enzyme is active (i.e. it uses energy from ATP). For every ATP molecule that the pump uses, three sodium ions are exported and two potassium ions are imported. Thus, there is a net export of a single positive charge per pump cycle. The net effect is an extracellular concentration of sodium ions which is 5 times the intracellular concentration, and an intracellular concentration of potassium ions which is 30 times the extracellular concentration. The sodium–potassium pump was discovered in 1957 by the Danish scientist Jens Christian Skou, who was awarded a Nobel Prize for his work in 1997. Its discovery marked an important step forward in the understanding of how ions get into ...
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ATPase
ATPases (, Adenosine 5'-TriPhosphatase, adenylpyrophosphatase, ATP monophosphatase, triphosphatase, ATP hydrolase, adenosine triphosphatase) are a class of enzymes that catalyze the decomposition of ATP into ADP and a free phosphate ion or the inverse reaction. This dephosphorylation reaction releases energy, which the enzyme (in most cases) harnesses to drive other chemical reactions that would not otherwise occur. This process is widely used in all known forms of life. Some such enzymes are integral membrane proteins (anchored within biological membranes), and move solutes across the membrane, typically against their concentration gradient. These are called transmembrane ATPases. Functions Transmembrane ATPases import metabolites necessary for cell metabolism and export toxins, wastes, and solutes that can hinder cellular processes. An important example is the sodium-potassium pump (Na+/K+ATPase) that maintains the cell membrane potential. Another example is the h ...
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Hemiplegic Migraine
Hemiplegic migraine is a type of migraine headache characterized by motor weakness affecting only one side of the body, accompanied by aura. There is often an impairment in vision, speech, or sensation. It can run in the family, called familial hemiplegic migraine, or in a single individual, called sporadic hemiplegic migraine. The symptoms can be similar to a stroke, and may be precipitated by minor head trauma. People with FHM are advised to avoid activities that may trigger their attacks. Symptoms and signs Hemiplegia (Greek 'hemi' = Half), is a condition that affects one side of the body. Signs of a hemiplegic migraine attack are similar to what would be presented in a stroke that typically includes sudden severe headache on one side of the brain, weakness of half the body, ataxia and aphasia which can last for hours, days or weeks. Cause Symptoms of weakness during a Hemiplegic migraine attack are a result of motor aura. The aura displayed during a migraine episode is belie ...
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Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metabolic reactions, DNA replication, Cell signaling, responding to stimuli, providing Cytoskeleton, structure to cells and Fibrous protein, organisms, and Intracellular transport, transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the Nucleic acid sequence, nucleotide sequence of their genes, and which usually results in protein folding into a specific Protein structure, 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called pep ...
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Inorganic Compound
An inorganic compound is typically a chemical compound that lacks carbon–hydrogen bonds⁠that is, a compound that is not an organic compound. The study of inorganic compounds is a subfield of chemistry known as ''inorganic chemistry''. Inorganic compounds comprise most of the Earth's crust, although the compositions of the deep Mantle (geology), mantle remain active areas of investigation. All allotropes (structurally different pure forms of an element) and some simple carbon compounds are often considered inorganic. Examples include the allotropes of carbon (graphite, diamond, buckminsterfullerene, graphene, etc.), carbon monoxide , carbon dioxide , carbides, and salt (chemistry), salts of inorganic anions such as carbonates, cyanides, cyanates, thiocyanates, isothiocyanates, etc. Many of these are normal parts of mostly organic systems, including organisms; describing a chemical as inorganic does not necessarily mean that it cannot occur within life, living things. History ...
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Epilepsy
Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activity in the brain that can cause a variety of symptoms, ranging from brief lapses of awareness or muscle jerks to prolonged convulsions. These episodes can result in physical injuries, either directly, such as broken bones, or through causing accidents. The diagnosis of epilepsy typically requires at least two unprovoked seizures occurring more than 24 hours apart. In some cases, however, it may be diagnosed after a single unprovoked seizure if clinical evidence suggests a high risk of recurrence. Isolated seizures that occur without recurrence risk or are provoked by identifiable causes are not considered indicative of epilepsy. The underlying cause is often unknown, but epilepsy can result from brain injury, stroke, infections, Brain tumor, ...
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Glycoprotein
Glycoproteins are proteins which contain oligosaccharide (sugar) chains covalently attached to amino acid side-chains. The carbohydrate is attached to the protein in a cotranslational or posttranslational modification. This process is known as glycosylation. Secreted extracellular proteins are often glycosylated. In proteins that have segments extending extracellularly, the extracellular segments are also often glycosylated. Glycoproteins are also often important integral membrane proteins, where they play a role in cell–cell interactions. It is important to distinguish endoplasmic reticulum-based glycosylation of the secretory system from reversible cytosolic-nuclear glycosylation. Glycoproteins of the cytosol and nucleus can be modified through the reversible addition of a single GlcNAc residue that is considered reciprocal to phosphorylation and the functions of these are likely to be an additional regulatory mechanism that controls phosphorylation-based signalling. In ...
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Catalytic
Catalysis () is the increase in reaction rate, rate of a chemical reaction due to an added substance known as a catalyst (). Catalysts are not consumed by the reaction and remain unchanged after it. If the reaction is rapid and the catalyst recycles quickly, very small amounts of catalyst often suffice; mixing, surface area, and temperature are important factors in reaction rate. Catalysts generally react with one or more reactants to form reaction intermediate, intermediates that subsequently give the final reaction product, in the process of regenerating the catalyst. The rate increase occurs because the catalyst allows the reaction to occur by an alternative mechanism which may be much faster than the noncatalyzed mechanism. However the noncatalyzed mechanism does remain possible, so that the total rate (catalyzed plus noncatalyzed) can only increase in the presence of the catalyst and never decrease. Catalysis may be classified as either homogeneous catalysis, homogeneou ...
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Enzyme
An enzyme () is a protein that acts as a biological catalyst by accelerating chemical reactions. The molecules upon which enzymes may act are called substrate (chemistry), substrates, and the enzyme converts the substrates into different molecules known as product (chemistry), products. Almost all metabolism, metabolic processes in the cell (biology), cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme, pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts include Ribozyme, catalytic RNA molecules, also called ribozymes. They are sometimes descr ...
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Muscle
Muscle is a soft tissue, one of the four basic types of animal tissue. There are three types of muscle tissue in vertebrates: skeletal muscle, cardiac muscle, and smooth muscle. Muscle tissue gives skeletal muscles the ability to muscle contraction, contract. Muscle tissue contains special Muscle contraction, contractile proteins called actin and myosin which interact to cause movement. Among many other muscle proteins, present are two regulatory proteins, troponin and tropomyosin. Muscle is formed during embryonic development, in a process known as myogenesis. Skeletal muscle tissue is striated consisting of elongated, multinucleate muscle cells called muscle fibers, and is responsible for movements of the body. Other tissues in skeletal muscle include tendons and perimysium. Smooth and cardiac muscle contract involuntarily, without conscious intervention. These muscle types may be activated both through the interaction of the central nervous system as well as by innervation ...
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Nerve
A nerve is an enclosed, cable-like bundle of nerve fibers (called axons). Nerves have historically been considered the basic units of the peripheral nervous system. A nerve provides a common pathway for the Electrochemistry, electrochemical nerve impulses called action potentials that are transmitted along each of the axons to peripheral organs or, in the case of sensory nerves, from the periphery back to the central nervous system. Each axon is an extension of an individual neuron, along with other supportive cells such as some Schwann cells that coat the axons in myelin. Each axon is surrounded by a layer of connective tissue called the endoneurium. The axons are bundled together into groups called Nerve fascicle, fascicles, and each fascicle is wrapped in a layer of connective tissue called the perineurium. The entire nerve is wrapped in a layer of connective tissue called the epineurium. Nerve cells (often called neurons) are further classified as either Sensory neuron, sens ...
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Electrical Excitability
Electricity is the set of physical phenomena associated with the presence and motion of matter possessing an electric charge. Electricity is related to magnetism, both being part of the phenomenon of electromagnetism, as described by Maxwell's equations. Common phenomena are related to electricity, including lightning, static electricity, electric heating, electric discharges and many others. The presence of either a positive or negative electric charge produces an electric field. The motion of electric charges is an electric current and produces a magnetic field. In most applications, Coulomb's law determines the force acting on an electric charge. Electric potential is the work done to move an electric charge from one point to another within an electric field, typically measured in volts. Electricity plays a central role in many modern technologies, serving in electric power where electric current is used to energise equipment, and in electronics dealing with electrical c ...
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