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    SLC6A11 solute carrier family 6 member 11 [ Homo sapiens (human) ]

    Gene ID: 6538, updated on 11-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Downregulation of GABA Transporter 3 (GAT3) is Associated with Deficient Oxidative GABA Metabolism in Human Induced Pluripotent Stem Cell-Derived Astrocytes in Alzheimer's Disease.

    Downregulation of GABA Transporter 3 (GAT3) is Associated with Deficient Oxidative GABA Metabolism in Human Induced Pluripotent Stem Cell-Derived Astrocytes in Alzheimer's Disease.
    Salcedo C, Wagner A, Andersen JV, Vinten KT, Waagepetersen HS, Schousboe A, Freude KK, Aldana BI.

    01/15/2022
    GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy.

    GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy.
    Schijns OE, Bisschop J, Rijkers K, Dings J, Vanherle S, Lindsey P, Smeets HJ, Hoogland G.

    12/12/2020
    we performed GATA4 mutation screening for 119 patients with 46, XY DSD without heart anomalies

    GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly.
    Igarashi M, Mizuno K, Kon M, Narumi S, Kojima Y, Hayashi Y, Ogata T, Fukami M., Free PMC Article

    10/19/2019
    GAT-3 expression was selectively decreased in the central amygdala of alcohol-dependent people compared to those who died of unrelated causes.

    A molecular mechanism for choosing alcohol over an alternative reward.
    Augier E, Barbier E, Dulman RS, Licheri V, Augier G, Domi E, Barchiesi R, Farris S, Nätt D, Mayfield RD, Adermark L, Heilig M.

    08/25/2018
    GABA-transporter 3 was reduced by about 62% in severe hippocampal sclerosis samples

    Hippocampal GABA transporter distribution in patients with temporal lobe epilepsy and hippocampal sclerosis.
    Schijns O, Karaca Ü, Andrade P, de Nijs L, Küsters B, Peeters A, Dings J, Pannek H, Ebner A, Rijkers K, Hoogland G.

    07/2/2016
    3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.

    3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.
    Dikow N, Maas B, Karch S, Granzow M, Janssen JW, Jauch A, Hinderhofer K, Sutter C, Schubert-Bast S, Anderlid BM, Dallapiccola B, Van der Aa N, Moog U.

    07/25/2015
    results suggest that GABA receptor signaling pathway was associated with the increased susceptibility to TD in Korean schizophrenic patients

    Gaba transporter SLC6A11 gene polymorphism associated with tardive dyskinesia.
    Son WY, Lee HJ, Yoon HK, Kang SG, Park YM, Yang HJ, Choi JE, An H, Seo HK, Kim L.

    11/22/2014
    Binding assays employing membrane preparations obtained from a stably GAT3 expressing HEK293 cell line and DDPM-1007 as nonlabeled GAT3 marker were performed. In these experiments specific binding of DDPM-1007 at GAT3 could be unambiguously detected.

    Development and validation of an LC-ESI-MS/MS quantification method for a potential γ-aminobutyric acid transporter 3 (GAT3) marker and its application in preliminary MS binding assays.
    Polley M, Höfner G, Wanner KT.

    09/28/2013
    The results suggest that GAT3 c.1572T may be one of the contributing factors with a modest effect on antiepileptic drug (AEDs) pharmacoresistance in the epileptic brain.

    Association of a synonymous GAT3 polymorphism with antiepileptic drug pharmacoresistance.
    Kim DU, Kim MK, Cho YW, Kim YS, Kim WJ, Lee MG, Kim SE, Nam TS, Cho KH, Kim YO, Lee MC.

    03/10/2012
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    homology models of hGAT-2 and hGAT-3 were built and searched for (i) substrate conformation, (ii) prediction of substrate (inhibitor) interaction, and (iii) distinguishable allosteric Zn2+ inhibition by combining docking and MD calculations.

    Substrate-Na+ complex formation: coupling mechanism for gamma-aminobutyrate symporters.
    Palló A, Simon A, Bencsura A, Héja L, Kardos J.

    01/21/2010
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (4) articles

    L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.
    Yokoyama K, Urashima M, Ohkido I, Kono T, Yoshida T, Muramatsu M, Niu T, Hosoya T.

    Genetical genomic determinants of alcohol consumption in rats and humans.
    Tabakoff B, Saba L, Printz M, Flodman P, Hodgkinson C, Goldman D, Koob G, Richardson HN, Kechris K, Bell RL, Hübner N, Heinig M, Pravenec M, Mangion J, Legault L, Dongier M, Conigrave KM, Whitfield JB, Saunders J, Grant B, Hoffman PL, WHO/ISBRA Study on State and Trait Markers of Alcoholism.

    Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment.
    Gratacòs M, Costas J, de Cid R, Bayés M, González JR, Baca-García E, de Diego Y, Fernández-Aranda F, Fernández-Piqueras J, Guitart M, Martín-Santos R, Martorell L, Menchón JM, Roca M, Sáiz-Ruiz J, Sanjuán J, Torrens M, Urretavizcaya M, Valero J, Vilella E, Estivill X, Carracedo A, Psychiatric Genetics Network Group.

    Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.
    Inada T, Koga M, Ishiguro H, Horiuchi Y, Syu A, Yoshio T, Takahashi N, Ozaki N, Arinami T.

    04/3/2008
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