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SGK1
Serine/threonine-protein kinase Sgk1 also known as serum and glucocorticoid-regulated kinase 1 is an enzyme that in humans is encoded by the SGK1 gene. SGK1 belongs to a subfamily of serine/threonine kinases that is under acute transcriptional control by several stimuli, including serum and glucocorticoids. The kinase is activated by insulin and growth factors via phosphatidylinositide-3-kinase, phosphoinositide-dependent kinase PDK1 and mammalian target of rapamycin mTORC2. It has been shown to "regulate several enzymes and transcription factors; SGK1 contributes to the regulation of transport, hormone release, neuroexcitability, inflammation, cell proliferation and apoptosis". SGK1 increases the protein abundance and/or activity of a variety of ion channel, carriers, and the Na+/K+-ATPase. Over the past few years, there has been increasing evidence that SGK1 expression is regulated during both discrete developmental stages and pathological conditions such as hypertension, d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KCNQ1
Kv7.1 (KvLQT1) is a potassium channel protein whose primary subunit in humans is encoded by the ''KCNQ1'' gene. Kv7.1 is a voltage and lipid-gated potassium channel present in the cell membranes of cardiac tissue and in inner ear neurons among other tissues. In the cardiac cells, Kv7.1 mediates the IKs (or slow delayed rectifying K+) current that contributes to the repolarization of the cell, terminating the cardiac action potential and thereby the heart's contraction. It is a member of the KCNQ family of potassium channels. Structure KvLQT1 is made of six membrane-spanning domains S1-S6, two intracellular domains, and a pore loop. The KvLQT1 channel is made of four KCNQ1 subunits, which form the actual ion channel. Function This gene encodes a protein for a voltage-gated potassium channel required for the repolarization phase of the cardiac action potential. The gene product can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. The gene ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SLC6A8
Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the ''SLC6A8'' gene. Clinical significance Mutations of the SLC6A8 gene can cause cerebral creatine deficiency syndrome 1. See also * Sodium:neurotransmitter symporter * Solute carrier family References Further reading * * * * * * * * * * * * * * * * * External links GeneReviews/NCBI/NIH/UW entry on Creatine Deficiency Syndromes Solute carrier family {{membrane-protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SGK3
Serine/threonine-protein kinase Sgk3 is an enzyme that in humans is encoded by the ''SGK3'' gene. Function This gene is a member of the serine/threonine protein kinase family and encodes a phosphoprotein with a PX (phox homology) domain. The protein phosphorylates several target proteins and has a role in neutral amino acid transport and activation of potassium and chloride channels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. In melanocytic cells SGK3 gene expression may be regulated by MITF. Interactions SGK3 has been shown to interact with GSK3B Glycogen synthase kinase-3 beta, (GSK-3 beta), is an enzyme that in humans is encoded by the ''GSK3B'' gene. In mice, the enzyme is encoded by the Gsk3b gene. Abnormal regulation and expression of GSK-3 beta is associated with an increased suscept .... References Further reading * * * * * * * * * * * * * * * EC 2.7.11 {{gene-8-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the 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 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 are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction ra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ischemia
Ischemia or ischaemia is a restriction in blood supply to any tissue, muscle group, or organ of the body, causing a shortage of oxygen that is needed for cellular metabolism (to keep tissue alive). Ischemia is generally caused by problems with blood vessels, with resultant damage to or dysfunction of tissue i.e. hypoxia and microvascular dysfunction. It also implies local hypoxia in a part of a body resulting from constriction (such as vasoconstriction, thrombosis, or embolism). Ischemia causes not only insufficiency of oxygen, but also reduced availability of nutrients and inadequate removal of metabolic wastes. Ischemia can be partial (poor perfusion) or total blockage. The inadequate delivery of oxygenated blood to the organs must be resolved either by treating the cause of the inadequate delivery or reducing the oxygen demand of the system that needs it. For example, patients with myocardial ischemia have a decreased blood flow to the heart and are prescribed with medi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dehydration
In physiology, dehydration is a lack of total body water, with an accompanying disruption of metabolic processes. It occurs when free water loss exceeds free water intake, usually due to exercise, disease, or high environmental temperature. Mild dehydration can also be caused by immersion diuresis, which may increase risk of decompression sickness in divers. Most people can tolerate a 3-4% decrease in total body water without difficulty or adverse health effects. A 5-8% decrease can cause fatigue and dizziness. Loss of over ten percent of total body water can cause physical and mental deterioration, accompanied by severe thirst. Death occurs at a loss of between fifteen and twenty-five percent of the body water.Ashcroft F, Life Without Water in Life at the Extremes. Berkeley and Los Angeles, 2000, 134-138. Mild dehydration is characterized by thirst and general discomfort and is usually resolved with oral rehydration. Dehydration can cause hypernatremia (high levels of sodium ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neuroglia
Glia, also called glial cells (gliocytes) or neuroglia, are non-neuronal cells in the central nervous system (brain and spinal cord) and the peripheral nervous system that do not produce electrical impulses. They maintain homeostasis, form myelin in the peripheral nervous system, and provide support and protection for neurons. In the central nervous system, glial cells include oligodendrocytes, astrocytes, ependymal cells, and microglia, and in the peripheral nervous system they include Schwann cells and satellite cells. Function They have four main functions: *to surround neurons and hold them in place *to supply nutrients and oxygen to neurons *to insulate one neuron from another *to destroy pathogens and remove dead neurons. They also play a role in neurotransmission and synaptic connections, and in physiological processes such as breathing. While glia were thought to outnumber neurons by a ratio of 10:1, recent studies using newer methods and reappraisal of historical qua ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hydrate
In chemistry, a hydrate is a substance that contains water or its constituent elements. The chemical state of the water varies widely between different classes of hydrates, some of which were so labeled before their chemical structure was understood. Chemical nature Inorganic chemistry Hydrates are inorganic salts "containing water molecules combined in a definite ratio as an integral part of the crystal" that are either bound to a metal center or that have crystallized with the metal complex. Such hydrates are also said to contain ''water of crystallization'' or ''water of hydration''. If the water is heavy water in which the constituent hydrogen is the isotope deuterium, then the term ''deuterate'' may be used in place of ''hydrate''. A colorful example is cobalt(II) chloride, which turns from blue to red upon hydration, and can therefore be used as a water indicator. The notation "''hydrated compound''⋅''n''", where ''n'' is the number of water molecules per formula un ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SCN5A
Sodium channel protein type 5 subunit alpha, also known as NaV1.5 is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. NaV1.5 is found primarily in cardiac muscle, where it mediates the fast influx of Na+-ions (INa) across the cell membrane, resulting in the fast depolarization phase of the cardiac action potential. As such, it plays a major role in impulse propagation through the heart. A vast number of cardiac diseases is associated with mutations in NaV1.5 (see paragraph genetics). ''SCN5A'' is the gene that encodes the cardiac sodium channel NaV1.5. Gene structure SCN5A is a highly conserved gene located on human chromosome 3, where it spans more than 100 kb. The gene consists of 28 exons, of which exon 1 and in part exon 2 form the 5' untranslated region ( 5’UTR) and exon 28 the 3' untranslated region ( 3’UTR) of the RNA. SCN5A is part of a family of 10 genes that encode different types of sodium channels, i.e. brain-type ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CLCN2
Chloride channel protein 2 is a protein that in humans is encoded by the ''CLCN2'' gene. Mutations of this gene have been found to cause leukoencephalopathy and Idiopathic generalised epilepsy (), although the latter claim has been disputed. CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain. See also * Chloride channel References Further reading * * * * * * * * * * * * * * * * External links * * {{Ion channels, g4 Ion channels ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TRPV5
Transient receptor potential cation channel subfamily V member 5 is a calcium channel protein that in humans is encoded by the ''TRPV5'' gene. Function The ''TRPV5'' gene is a member of the transient receptor family and the TRPV subfamily. The calcium-selective channel, TRPV5, encoded by this gene has 6 transmembrane-spanning domains, multiple potential phosphorylation sites, an N-linked glycosylation site, and 5 ANK repeats. This protein forms homotetramers or heterotetramers and is activated by a low internal calcium level. Both TRPV5 and TRPV6 are expressed in kidney and intestinal epithelial cells. TRPV5 is mainly expressed in kidney epithelial cells, where it plays an important role in the reabsorption of Ca2+, whereas TRPV6 is mainly expressed in the intestine. The enzyme α-klotho increases kidney calcium reabsorption by stabilizing TPRV5. Klotho is a beta-glucuronidase-like enzyme that activates TRPV5 by removal of sialic acid. Clinical significance Norma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KCNJ1
The renal outer medullary potassium channel (ROMK) is an ATP-dependent potassium channel (Kir1.1) that transports potassium out of cells. It plays an important role in potassium recycling in the thick ascending limb (TAL) and potassium secretion in the cortical collecting duct (CCD) of the nephron. In humans, ROMK is encoded by the ''KCNJ1'' (potassium inwardly-rectifying channel, subfamily J, member 1) gene. Multiple transcript variants encoding different isoforms have been found for this gene. Function Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is inhibited by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell, which has (hence the term "inwardly rectif ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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