SLC6A6
Function
Mediates sodium- and chloride-dependent transport of taurine (PubMed:31345061, PubMed:31903486, PubMed:8010975, PubMed:8382624, PubMed:8654117). Mediates transport of beta-alanine (PubMed:8010975). Can also mediate transport of hypotaurine and gamma-aminobutyric acid (GABA) (By similarity).
Sodium-dependent taurine and beta-alanine transporter. Chloride ions are necessary for optimal uptake.
Involvement in disease
Hypotaurinemic retinal degeneration and cardiomyopathy
HTRDC
An autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Taurine transport activity is down-regulated upon Ser-322 phosphorylation.
Sequence Similarities
Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A6 subfamily.
Tissue Specificity
Expressed abundantly in placenta and skeletal muscle, at intermediate levels in heart, brain, lung, kidney and pancreas and at low levels in liver.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
Sodium- and chloride-dependent taurine transporter, Solute carrier family 6 member 6, SLC6A6