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SLC6A1
GABA transporter 1 (GAT1) also known as sodium- and chloride-dependent GABA transporter 1 is a protein that in humans is encoded by the ''SLC6A1'' gene and belongs to the solute carrier 6 (SLC6) family of transporters. It mediates gamma-aminobutyric acid's translocation from the extracellular to intracellular spaces within brain tissue and the central nervous system as a whole. Structure GAT1 is a 599 amino acid protein that consists of 12 transmembrane domains with an intracellular N-terminus and C-terminus. Function GAT1 is a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft by shuttling it to presynaptic neurons (where GABA can be recycled) and astrocytes (where GABA can be broken down). GABA Transporter 1 uses energy from the dissipation of a Na+ gradient, aided by the presence of a Cl− gradient, to translocate GABA across CNS neuronal membranes. The stoichiometry for GABA Transporter 1 is 2 Na+: 1 Cl−: 1 GABA. The presence of a Cl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SLC6A1 Epileptic Encephalopathy
SLC6A1 epileptic encephalopathy is a genetic disorder characterised by the loss-of-function of one copy of the human SLC6A1 gene. SLC6A1 epileptic encephalopathy can typically manifest itself with early onset seizures and it can also be characterised by mild to severe learning disability. Not all manifestations of the conditions are present in one given patient. Background Research published in 2015 linked mutations on the solute carrier family 6 member 1 protein (SLC6A1) to developmental and epileptic encephalopathies. SLC6A1 is present only on 13% of genetic panel testing, so the condition is very under-diagnosed. Currently an incidence of 1 in 38,000 births is reported. Signs and symptoms Owing to the limited number of patients diagnosed, the full extent of symptoms is not fully understood. Typically, the condition manifests itself via absence seizures, myoclonic-atonic epilepsy and mild-to-moderate learning disability. In addition, speech difficulties and behavioral problems ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Solute Carrier Family
The solute carrier (SLC) group of membrane transport proteins include over 400 members organized into 66 families. Most members of the SLC group are located in the cell membrane. The SLC gene nomenclature system was originally proposed by the HUGO Gene Nomenclature Committee (HGNC) and is the basis for the official HGNC names of the genes that encode these transporters. A more general transmembrane transporter classification can be found in TCDB, TCDB database. Solutes that are transported by the various SLC group members are extremely diverse and include both charged and uncharged organic molecules as well as inorganic ions and the gas Ammonia transporter, ammonia. As is typical of integral membrane proteins, SLCs contain a number of hydrophobic transmembrane Alpha helix, alpha helices connected to each other by hydrophilic intra- and extra-cellular loops. Depending on the SLC, these transporters are functional as either monomers or obligate homo- or hetero-oligomers. Many SLC fam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GABA Transporter Type 2
GABA transporter 2 (GAT2; SLC6A13) also known as sodium- and chloride-dependent GABA transporter 2 is one of four GABA transporters, GAT1 ( SLC6A1), GAT2 (SLC6A13), GAT3 ( SLC6A11) and BGT1 ( SLC6A12). Note that GAT2 is different from BGT1 despite the fact that the latter transporter is sometimes referred at as (mouse) GAT-2. All these transporters are highly hydrophobic proteins with 12 transmembrane segments, extracellular glycosylation sites, and intracellular consensus sites for phosphorylation, and there is over 50% amino acid homology between each of them. Each binds GABA with varying affinities with BGT1 having the lowest affinity and GAT3 the highest. GAT2 (SLC6A13) is predominantly expressed in hepatocytes in the liver, but is also found in proximal tubules in the kidney as well as in the leptomeninges and in some blood vessels in the brain. Biological function Brain Deletion of the GAT2 gene in mice does not appear to have any dramatic effects on brain function in a no ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
STX1A
Syntaxin-1A is a protein that in humans is encoded by the ''STX1A'' gene. Function Synaptic vesicles store neurotransmitters that are released during calcium-regulated exocytosis. The specificity of neurotransmitter release requires the localization of both synaptic vesicles and calcium channels to the chemical synapse, presynaptic active zone. Syntaxins function in this vesicle fusion process. Syntaxin-1A is a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminus, C-terminal transmembrane domain, a SNARE (protein), SNARE [Soluble NSF (N-ethylmaleimide-sensitive fusion protein)-Attachment protein REceptor] domain (known as H3), and an N-terminus, N-terminal regulatory domain (Habc). Syntaxins bind synaptotagmin in a calcium-dependent fashion and interact with voltage dependent calcium and potassium channels via the C-terminal H3 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Solitary Nucleus
The solitary nucleus (SN) (nucleus of the solitary tract, nucleus solitarius, or nucleus tractus solitarii) is a series of neurons whose cell bodies form a roughly vertical column of grey matter in the medulla oblongata of the brainstem. Their axons form the bulk of the enclosed solitary tract. The solitary nucleus can be divided into different parts including dorsomedial, dorsolateral, and ventrolateral subnuclei. The solitary nucleus receives general visceral and special visceral inputs from the facial nerve (CN VII), glossopharyngeal nerve (CN IX) and vagus nerve (CN X); it receives and relays stimuli related to taste and visceral sensation. It sends outputs to various parts of the brain, such as the hypothalamus, thalamus, and reticular formation, forming circuits that contribute to autonomic regulation. Cells along the length of the SN are arranged roughly in accordance with function; for instance, cells involved in taste are located in the rostral part, while those rec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
GABA Transporter Type 3
GABA transporter type 3 (GAT3) uses sodium (Na+) electrochemical gradients to mediate uptake of GABA from the synaptic cleft by surrounding glial cells. Subtype-selective GAT3 inhibitors are known since 2015. The transporter and its effect on GABA concentrations in the amygdala has been implicated as a key player in the disease of alcoholism. In studies conducted on rat populations, reduction of GAT3 caused rats who formerly preferred sugar to prefer alcohol. Further, studies of deceased alcoholics show a decreased concentration of GAT3 in their brains. See also * GABA transporter 1 * GABA transporter 2 * Solute carrier family The solute carrier (SLC) group of membrane transport proteins include over 400 members organized into 66 families. Most members of the SLC group are located in the cell membrane. The SLC gene nomenclature system was originally proposed by the HUGO ... References Solute carrier family Neurotransmitter transporters GABA {{membrane-protein-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rostral Ventrolateral Medulla
The rostral ventrolateral medulla (RVLM), also known as the pressor area of the medulla, is a part of the ventrolateral medulla in the brainstem responsible for basal and reflex control of sympathetic activity associated with cardiovascular function. Abnormally elevated sympathetic activity in the RVLM is associated with various cardiovascular diseases, such as heart failure and hypertension. The RVLM is notably involved in the baroreflex. It receives inhibitory GABAergic input from the caudal ventrolateral medulla (CVLM). The RVLM is a primary regulator of the sympathetic nervous system; it sends catecholaminergic projections to the sympathetic preganglionic neurons in the intermediolateral nucleus of the spinal cord via reticulospinal tract. Physostigmine, a choline-esterase inhibitor, elevates endogenous levels of acetylcholine and causes a rise in blood pressure by stimulation of the RVLM. Orexinergic neurons from the lateral hypothalamus The lateral hypothalamus (L ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paraventricular Nucleus Of Hypothalamus
The paraventricular nucleus (PVN) is a nucleus in the hypothalamus, located next to the third ventricle. Many of its neurons project to the posterior pituitary where they secrete oxytocin, and a smaller amount of vasopressin. Other secretions are corticotropin-releasing hormone (CRH) and thyrotropin-releasing hormone (TRH). CRH and TRH are secreted into the hypophyseal portal system, and target different neurons in the anterior pituitary. Dysfunctions of the PVN can cause hypersomnia in mice. In humans, the dysfunction of the PVN and the other nuclei around it can lead to drowsiness for up to 20 hours per day. The PVN is thought to mediate many diverse functions through different hormones, including osmoregulation, appetite, wakefulness, and the response of the body to stress. Location The paraventricular nucleus lies adjacent to the third ventricle. It lies within the periventricular zone and is not to be confused with the periventricular nucleus, which occupies a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Schizophrenia
Schizophrenia () is a mental disorder characterized variously by hallucinations (typically, Auditory hallucination#Schizophrenia, hearing voices), delusions, thought disorder, disorganized thinking and behavior, and Reduced affect display, flat or inappropriate affect. Symptoms Prodrome, develop gradually and typically begin during young adulthood and rarely resolve. There is no objective diagnostic test; diagnosis is based on observed behavior, a psychiatric history that includes the person's reported experiences, and reports of others familiar with the person. For a diagnosis of schizophrenia, the described symptoms need to have been present for at least six months (according to the DSM-5) or one month (according to the ICD-11). Many people with schizophrenia have other mental disorders, especially mood disorder, mood, anxiety disorder, anxiety, and substance use disorders, substance use disorders, as well as obsessive–compulsive disorder (OCD). About 0.3% to 0.7% of peo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
