SLC6
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SLC6
A neurotransmitter sodium symporter (NSS)TC# 2.A.22 is type of neurotransmitter transporter that catalyzes the uptake of a variety of neurotransmitters, amino acids, osmolytes and related nitrogenous substances by a solute:Na+ symport mechanism. The NSS family is a member of the APC superfamily. Its constituents have been found in bacteria, archaea and eukaryotes. Function Neurotransmitter transport systems are responsible for the release, re-uptake and recycling of neurotransmitters at synapses. High affinity transport proteins found in the plasma membrane of presynaptic nerve terminals and glial cells are responsible for the removal, from the extracellular space, of released-transmitters, thereby terminating their actions. The majority of the transporters constitute an extensive family of homologous proteins that derive energy from the co-transport of Na+ and Cl−, in order to transport neurotransmitter molecules into the cell against their concentration gradient. Neurot ...
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SLC6A4
The serotonin transporter (SERT or 5-HTT) also known as the sodium-dependent serotonin transporter and solute carrier family 6 member 4 is a protein that in humans is encoded by the SLC6A4 gene. SERT is a type of monoamine transporter protein that transports the neurotransmitter serotonin from the synaptic cleft back to the presynaptic neuron, in a process known as serotonin reuptake. This transport of serotonin by the SERT protein terminates the action of serotonin and recycles it in a sodium-dependent manner. Many antidepressant medications of the SSRI and tricyclic antidepressant classes work by binding to SERT and thus reducing serotonin reuptake. It is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, post-traumatic stress disorder and depression-suscepti ...
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SLC6A8
Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the ''SLC6A8'' gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b .... 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 ...
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SLC6A18
Solute carrier family 6, member 18 also known as SLC6A18 is a protein which in humans is encoded by the ''SLC6A18'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... Function The SLC6 family of proteins, which includes SLC6A18, acts as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions. Clinical significance Mutations in the SLC6A18 gene are associated with iminoglycinuria. References Further reading * * * * * * * * Solute carrier family {{gene-5-stub ...
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SLC6A19
Sodium-dependent neutral amino acid transporter B(0)AT1 is a protein that in humans is encoded by the ''SLC6A19'' gene. Function SLC6A19 is a system B(0) transporter that mediates epithelial resorption of neutral amino acids across the apical membrane The cell membrane (also known as the plasma membrane (PM) or cytoplasmic membrane, and historically referred to as the plasmalemma) is a biological membrane that separates and protects the interior of all cells from the outside environment (t ... in the kidney and intestine. Clinical significance Mutations in the SLC6A19 gene cause Hartnup disease. References Further reading * * * * * * * {{Membrane transport proteins Solute carrier family ...
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SLC6A5
Sodium- and chloride-dependent glycine transporter 2, also known as glycine transporter 2 (GlyT2), is a protein that in humans is encoded by the ''SLC6A5'' gene. The glycine transporter 2 is a membrane protein which recaptures glycine, a major inhibitory transmitter in the spinal cord and brainstem. GlyT2 is a specific marker of glycinergic neurons and a member of the Na+ and Cl−-coupled transporter family SLC6. Glycine uptake mediated by GlyT2 is electrogenic, coupled to three Na+ and one Cl− (i.e. two positive charges per glycine). In humans, GlyT2 is encoded by the ''SLC6A5'' gene. Inactivation of GlyT2 in knockout mice is lethal during the second post-natal week as the absence of GlyT2 disrupts inhibitory transmission by reducing glycine release. Mutations in SLC6A5 gene are responsible for a presynaptic form of hyperekplexia, a genetic disease causing increased startle reflex. GlyT2 main physiological role is to recapture glycine released in the synaptic cleft and to main ...
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SLC6A13
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 Clâ ...
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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 ...
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SLC6A14
Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) (SLC6A14) is a protein that in humans is encoded by the ''SLC6A14'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... Function SLC6A14 is a member of the Na+- and Cl−-dependent neurotransmitter transporter family and transports both neutral and cationic amino acids in an Na+- and Cl−-dependent manner. upplied by OMIMref name="entrez"> References Further reading * * * * * Solute carrier family {{gene-X-stub ...
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SLC6A15
Sodium-dependent neutral amino acid transporter B(0)AT2 is a protein that in humans is encoded by the ''SLC6A15'' gene. Function SLC6A15 shows structural characteristics of an Na+ and Cl−-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation Glycosylation is the reaction in which a carbohydrate (or ' glycan'), i.e. a glycosyl donor, is attached to a hydroxyl or other functional group of another molecule (a glycosyl acceptor) in order to form a glycoconjugate. In biology (but not al ... sites. Clinical relevance Variants of this gene linked with depression are associated with reduced SLC6A15 expression in the human hippocampus, as well as decreased volume of this brain region. References Further reading * * * * * * Solute carrier family {{gene-12-stub ...
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SLC6A20
Solute carrier family 6, member 20 also known as SLC6A20 is a protein which in humans is encoded by the ''SLC6A20'' gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba .... Function Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene is a member of the subgroup of transporter with unidentified substrates within the Na+ and Cl− coupled transporter family. This gene is expressed in kidney, and its alternative splicing generates 2 transcript variants. Clinical significance Mutation in the SLC6A20 gene are associated with iminoglycinuria. One of a cluster of 6 genes ''(SLC6A20'', ''LZTFL1'', ''CCR9'', ''FYCO1' ...
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SLC6A2
The norepinephrine transporter (NET), also known as noradrenaline transporter (NAT), is a protein that in humans is encoded by the solute carrier family 6 member 2 (SLC6A2) gene. NET is a monoamine transporter and is responsible for the sodium-chloride (Na+/Cl−)-dependent reuptake of extracellular norepinephrine (NE), which is also known as noradrenaline. NET can also reuptake extracellular dopamine (DA). The reuptake of these two neurotransmitters is essential in regulating concentrations in the synaptic cleft. NETs, along with the other monoamine transporters, are the targets of many antidepressants and recreational drugs. In addition, an overabundance of NET is associated with ADHD. There is evidence that single-nucleotide polymorphisms in the NET gene (''SLC6A2'') may be an underlying factor in some of these disorders. Gene The norepinephrine transporter gene, SLC6A2 is located on human chromosome 16 locus 16q12.2. This gene is encoded by 14 exons. Based on the nuc ...
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SLC6A9
Sodium- and chloride-dependent glycine transporter 1, also known as glycine transporter 1, is a protein that in humans is encoded by the ''SLC6A9'' gene. Selective inhibitors Elevation of extracellular synaptic glycine concentration by blockade of GlyT1 has been hypothesized to potentiate NMDA receptor function in vivo and to represent a rational approach for the treatment of schizophrenia and cognitive disorders. Several drug candidates have reached clinical trials. * ASP2535 * Bitopertin (RG1678), which has entered phase II trials for the treatment of schizophrenia * Iclepertin ( BI 425809) by Boehringer Ingelheim which is thought to improve cognitive impairment due to schizophrenia * Org 25935 ORG-25935, also known as SCH-900435 is a synthetic drug developed by Organon International, which acts as a selective inhibitor of the glycine transporter GlyT-1. In animal tests it reduces alcohol consumption and has analgesic An analgesic ... (Sch 900435) * PF-03463275 (in phas ...
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