solute carrier family 6 (neurotransmitter transporter, taurine), member 6
Synonyms
AA589629
C80501
Biotype
protein coding gene
Automated Description
Enables beta-alanine transmembrane transporter activity; gamma-aminobutyric acid:sodium:chloride symporter activity; and taurine:sodium symporter activity. Involved in modulation of chemical synaptic transmission. Acts upstream of or within beta-alanine transport and taurine transmembrane transport. Is active in GABA-ergic synapse and postsynaptic membrane. Is expressed in several structures, including brain; cardiovascular system; retina; spinal cord mantle layer; and tooth. Used to study retinitis pigmentosa. Orthologous to human SLC6A6 (solute carrier family 6 member 6).
MGI Description
PHENOTYPE: Homozygous mutant mice have impaired vision associated with retinal degeneration. In addition to the visual defects, mutant mice exhibit reduced female fertility and decreased levels of taurine in a variety of tissues. [provided by MGI curators]