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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed neurology neurodegenerative   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