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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
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