LRRC37A
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LRRC37A
Leucine rich repeat containing 37A is a protein in humans that is encoded by the ''LRRC37A'' gene. The LRRC37 gene family has been expanded in the genome of the simians through segmental duplications leading to new genes in simian, hominid and human species. Most of these new genes belong to the ancestral LRRC37A-type. The human genomes contains at least 4 encoding gene paralogs with 3 of the ancestral type: LRRC37A, LRRC37A2, LRRC37A3 and a new type of receptor shared between hominid species: LRRC37B. In the human cerebral cortex, LRRC37B is selectively expressed in pyramidal neurons at the level of the axon initial segment, which is not found in other nonhuman primate species (chimpanzees, macaques). It decreases there the excitability of the neurons, a feature specific to the human species compared to other mammalian species. It acts by binding to secreted FGF13A and SCN1B which leads to an inhibition of the voltage-gate sodium channels which generate the action potent ...
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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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Cerebral Cortex
The cerebral cortex, also known as the cerebral mantle, is the outer layer of neural tissue of the cerebrum of the brain in humans and other mammals. It is the largest site of Neuron, neural integration in the central nervous system, and plays a key role in attention, perception, awareness, thought, memory, language, and consciousness. The six-layered neocortex makes up approximately 90% of the Cortex (anatomy), cortex, with the allocortex making up the remainder. The cortex is divided into left and right parts by the longitudinal fissure, which separates the two cerebral hemispheres that are joined beneath the cortex by the corpus callosum and other commissural fibers. In most mammals, apart from small mammals that have small brains, the cerebral cortex is folded, providing a greater surface area in the confined volume of the neurocranium, cranium. Apart from minimising brain and cranial volume, gyrification, cortical folding is crucial for the Neural circuit, brain circuitry ...
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SCN1B
Sodium channel subunit beta-1 is a protein that in humans is encoded by the ''SCN1B'' gene. Voltage-gated sodium channels are essential for the generation and propagation of action potentials in striated muscle and neuronal tissues. Biochemically, they consist of a large alpha subunit and 1 or 2 smaller beta subunits, such as SCN1B. The alpha subunit alone can exhibit all the functional attributes of a voltage-gated Na+ channel, but requires a beta-1 subunit for normal inactivation kinetics. upplied by OMIMref name="entrez" /> Clinical significance Mutation in the SCN1B gene are associated with disorders such as Brugada syndrome, Dravet Syndrome, and GEFS. See also * Sodium channel Sodium channels are integral membrane proteins that form ion channels, conducting sodium ions (Na+) through a cell (biology), cell's cell membrane, membrane. They belong to the Cation channel superfamily, superfamily of cation channels. Classific ... References Further reading * * * * * * ...
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FGF13
Fibroblast growth factor 13 is a protein that in humans is encoded by the ''FGF13'' gene. The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, invasion, and neuronal physiology. This gene is located to a region associated with Börjeson-Forssman-Lehmann syndrome (BFLS), a syndromal X-linked intellectual disability, which suggests it may be a candidate gene for familial cases of the BFL syndrome. The function of this gene has not yet been determined. Several alternatively spliced transcripts encoding different isoforms have been described for this gene. FGF13 isoform 1 (FGF13A) binds to the leucine-rich repeats of the hominid-specific receptor LRRC37B. In human pyramidal neurons of the cerebral cortex The cerebral cortex, a ...
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Cell Excitability
Membrane potential (also transmembrane potential or membrane voltage) is the difference in electric potential between the interior and the exterior of a biological cell. It equals the interior potential minus the exterior potential. This is the energy (i.e. work) per charge which is required to move a (very small) positive charge at constant velocity across the cell membrane from the exterior to the interior. (If the charge is allowed to change velocity, the change of kinetic energy and production of radiation must be taken into account.) Typical values of membrane potential, normally given in units of milli volts and denoted as mV, range from −80 mV to −40 mV. For such typical negative membrane potentials, positive work is required to move a positive charge from the interior to the exterior. However, thermal kinetic energy allows ions to overcome the potential difference. For a selectively permeable membrane, this permits a net flow against the gradient. This is a kind o ...
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Nonhuman Primate
Primates is an order of mammals, which is further divided into the strepsirrhines, which include lemurs, galagos, and lorisids; and the haplorhines, which include tarsiers and simians (monkeys and apes). Primates arose 74–63 million years ago first from small terrestrial mammals, which adapted for life in tropical forests: many primate characteristics represent adaptations to the challenging environment among tree tops, including large brain sizes, binocular vision, color vision, vocalizations, shoulder girdles allowing a large degree of movement in the upper limbs, and opposable thumbs (in most but not all) that enable better grasping and dexterity. Primates range in size from Madame Berthe's mouse lemur, which weighs , to the eastern gorilla, weighing over . There are 376–524 species of living primates, depending on which classification is used. New primate species continue to be discovered: over 25 species were described in the 2000s, 36 in the 2010s, and six in ...
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Axon
An axon (from Greek ἄξων ''áxōn'', axis) or nerve fiber (or nerve fibre: see American and British English spelling differences#-re, -er, spelling differences) is a long, slender cellular extensions, projection of a nerve cell, or neuron, in Vertebrate, vertebrates, that typically conducts electrical impulses known as action potentials away from the Soma (biology), nerve cell body. The function of the axon is to transmit information to different neurons, muscles, and glands. In certain sensory neurons (pseudounipolar neurons), such as those for touch and warmth, the axons are called afferent nerve fibers and the electrical impulse travels along these from the peripheral nervous system, periphery to the cell body and from the cell body to the spinal cord along another branch of the same axon. Axon dysfunction can be the cause of many inherited and acquired neurological disorders that affect both the Peripheral nervous system, peripheral and Central nervous system, central ne ...
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Pyramidal Cell
Pyramidal cells, or pyramidal neurons, are a type of multipolar neuron found in areas of the brain including the cerebral cortex, the hippocampus, and the amygdala. Pyramidal cells are the primary excitation units of the mammalian prefrontal cortex and the corticospinal tract. One of the main structural features of the pyramidal neuron is the conic shaped soma, or cell body, after which the neuron is named. Other key structural features of the pyramidal cell are a single axon, a large apical dendrite, multiple basal dendrites, and the presence of dendritic spines. Pyramidal neurons are also one of two cell types where the characteristic sign, Negri bodies, are found in post-mortem rabies infection. Pyramidal neurons were first discovered and studied by Santiago Ramón y Cajal. Since then, studies on pyramidal neurons have focused on topics ranging from neuroplasticity to cognition. Structure One of the main structural features of the pyramidal neuron is the conic sha ...
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Paralogs
Sequence homology is the biological homology between DNA, RNA, or protein sequences, defined in terms of shared ancestry in the evolutionary history of life. Two segments of DNA can have shared ancestry because of three phenomena: either a speciation event (orthologs), or a duplication event (paralogs), or else a horizontal (or lateral) gene transfer event (xenologs). Homology among DNA, RNA, or proteins is typically inferred from their nucleotide or amino acid sequence similarity. Significant similarity is strong evidence that two sequences are related by evolutionary changes from a common ancestral sequence. Alignments of multiple sequences are used to indicate which regions of each sequence are homologous. Identity, similarity, and conservation The term "percent homology" is often used to mean "sequence similarity”, that is the percentage of identical residues (''percent identity''), or the percentage of residues conserved with similar physicochemical properties (''p ...
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Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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 non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ...
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Human Genome
The human genome is a complete set of nucleic acid sequences for humans, encoded as the DNA within each of the 23 distinct chromosomes in the cell nucleus. A small DNA molecule is found within individual Mitochondrial DNA, mitochondria. These are usually treated separately as the nuclear genome and the Human mitochondrial genetics, mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of non-coding DNA, DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of RNA#Regulatory RNA, regulatory RNAs. It also includes Promoter (biology), promoters and their associated Cis-regulatory element, gene-regulatory elements, DNA playing structural and replicatory roles, such as Scaffold/matrix attachment region, scaffolding regions, telomeres, centromeres, and Origin of replication, origins of repl ...
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Human
Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing#Evolution of hairlessness, hairlessness, bipedality, bipedalism, and high Human intelligence, intelligence. Humans have large Human brain, brains, enabling more advanced cognitive skills that facilitate successful adaptation to varied environments, development of sophisticated tools, and formation of complex social structures and civilizations. Humans are Sociality, highly social, with individual humans tending to belong to a Level of analysis, multi-layered network of distinct social groups — from families and peer groups to corporations and State (polity), political states. As such, social interactions between humans have established a wide variety of Value theory, values, norm (sociology), social norms, languages, and traditions (co ...
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