Neurofilament Light Polypeptide
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Neurofilament Light Polypeptide
Neurofilament light polypeptide is a protein that in humans is encoded by the NEFL gene. Structure Neurofilament light polypeptide is a member of the intermediate filament protein family. This protein family consists of over 50 human proteins divided into 5 major classes, the Class I and II keratins, Class III vimentin, GFAP, desmin and the others, the Class IV neurofilaments and the Class V nuclear lamins. There are four major neurofilament subunits, NF-L, NF-M, NF-H and α-internexin. These form heteropolymers which assemble to produce 10 nm neurofilaments which are only expressed in neurons where they are major structural proteins, particularly concentrated in large projection axons. The NF-L protein is encoded by the ''NEFL'' gene. Function These neurofilament heteropolymers assemble into the cytoskeleton of axons, where they provide structural support and help regulate axonal diameter and conduction velocity. Axons are particularly sensitive to mechanical and metaboli ...
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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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Alzheimer's Disease
Alzheimer's disease (AD) is a neurodegenerative disease and the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As the disease advances, symptoms can include problems with language, disorientation (including easily getting lost), mood swings, loss of motivation, self-neglect, and behavioral issues. As a person's condition declines, they often withdraw from family and society. Gradually, bodily functions are lost, ultimately leading to death. Although the speed of progression can vary, the average life expectancy following diagnosis is three to twelve years. The causes of Alzheimer's disease remain poorly understood. There are many environmental and genetic risk factors associated with its development. The strongest genetic risk factor is from an allele of apolipoprotein E. Other risk factors include a history of head injury, clinical depression, and high blood pressure. The progression of the di ...
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TSC1
Tuberous sclerosis 1 (TSC1), also known as hamartin, is a protein that in humans is encoded by the ''TSC1'' gene. Function TSC1 functions as a co-chaperone which inhibits the ATPase activity of the chaperone Hsp90 (heat shock protein-90) and decelerates its chaperone cycle. TSC1 functions as a facilitator of Hsp90 in chaperoning the kinase and non-kinase clients including TSC2, therefore preventing their ubiquitination and degradation in the proteasome. TSC1, TSC2 anTBC1D7is a multi-protein complex also known as the TSC complex. This complex negatively regulates mTORC1 signaling by functioning as a GTPase-activating protein (GAP) for the small GTPase Rheb, an essential activator of mTORC1. The TSC complex has been implicated as a tumor suppressor. Clinical significance Defects in this gene can cause tuberous sclerosis, due to a functional impairment of the TSC complex. Defects in TSC1 may also be a cause of focal cortical dysplasia. TSC1 may be involved in protecting brai ...
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Protein Kinase N1
Serine/threonine-protein kinase N1 is an enzyme that in humans is encoded by the ''PKN1'' gene. Function The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. Interactions Protein kinase N1 has been shown to interact with: * AKAP9, * Actinin, alpha 1, * CCDC85B, * NEFL, * NEUROD2 * Phosphoinositide-dependent kinase-1, * Phospholipase D1, * RHOA, and * ...
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MAP2
Microtubule-associated protein 2 is a protein in humans that is encoded by the ''MAP2'' gene. Function This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family were originally isolated since they copurify with tubulin in polymerization experiments: tubulin in cell extracts can be made to polymerize to produce microtubules (MT) under the influence of heat and the addition of Guanosine triphosphate, GTP, and the MT can then be collected by centrifugation. When this is done a series of microtubule associated proteins are collected along with the MT and can be detected by SDS-PAGE and other methods. Brain extracts are rich in several of these proteins, MAP2 being one of these. The single MAP2 gene produces four major transcripts producing four proteins, MAP2A, MAP2B, MAP2C and MAP2D. MAP2A and MAP2B are very high molecular weight proteins, with apparent molecular weight on SDS-PAGE about 250 kDa, while MAP2C and MAP2D ar ...
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Neuron In Tissue Culture
A neuron (American English), neurone (British English), or nerve cell, is an membrane potential#Cell excitability, excitable cell (biology), cell that fires electric signals called action potentials across a neural network (biology), neural network in the nervous system. They are located in the nervous system and help to receive and conduct impulses. Neurons communicate with other cells via synapses, which are specialized connections that commonly use minute amounts of chemical neurotransmitters to pass the electric signal from the presynaptic neuron to the target cell through the synaptic gap. Neurons are the main components of nervous tissue in all Animalia, animals except sponges and placozoans. Plants and fungi do not have nerve cells. Molecular evidence suggests that the ability to generate electric signals first appeared in evolution some 700 to 800 million years ago, during the Tonian period. Predecessors of neurons were the peptidergic secretory cells. They eventually ga ...
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