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FLASH GENE
Symbol SLC6A6 contributors: mct - updated : 19-01-2013
HGNC name solute carrier family 6 (neurotransmitter transporter, taurine), member 6
HGNC id 11052
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
12 transmembrane segments (12TM)
conjugated GlycoP
HOMOLOGY
interspecies ortholog to rattus Slc6a6
ortholog to murine Slc6a6
Homologene
FAMILY solute carrier family 6, neurotansmitter, taurine
CATEGORY transport carrier
SUBCELLULAR LOCALIZATION     plasma membrane
basic FUNCTION
  • Na+ (and Cl-) dependent plasma membrane transporter
  • functional SLC6A6 plays a critical role in protecting against cisplatin-induced nephrotoxicity, possibly by attenuating a TP53-dependent pathway
  • has the ability to use GABA as a substrate and Slc6a6/TauT-mediated GABA transport appears to be present at the inner blood-retinal barrier
  • Na(+)- and Cl(-)-dependent, high-affinity, low-capacity transporter of taurine and beta-alanine
  • may be important for taurine supply to the intestinal epithelium and for taurine capture between meals
  • plays a critical role in renal function
  • possible involvement in taurine uptake by Müller cells in retina
  • critical for rescuing T cells from activation-induced cell death
  • osmolyte transporter that is crucial for T-cell survival and T-cell mediated immune reactions
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • its expression is negatively regulated by TP53 and positively regulated by c-Jun, which is mediated by the JNK signaling pathway
  • cell & other
    REGULATION
    Other regulated by WT1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in spinal motor neurons of patients with ALS, and elevated expression of SLC6A6 directly contributes to increased taurine uptake in ALS motor neurons
    constitutional     --over  
    in mononuclear peripheral blood cells of type 2 diabetic patients, while presence of retinopathy is specifically associated with a drop in SLC6A6 overexpression, suggesting its possible involvement in this microangiopathic lesion
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • is a novel pathological marker for stressed motor neurons in ALS
  • Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerative 
    modulation of SLC6A6 and taurine may slow neuronal degeneration in ALS
    ANIMAL & CELL MODELS
  • hereditary taurine deficiency in taurine-transporter knock-out (TAUT KO) mice results in disinhibition of striatal network activity, which can be corrected by taurine supplementation