SLC6A6

Chr 3p25.1

solute carrier family 6 member 6

Aliases:: TAUT
MANE:: ENST00000622186.5

OMIM: 186854 ↗NCBI: 6533 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC6A6 · P31641

v62025-08-01

Predicted Aligned Error matrix for SLC6A6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.8/ 100

Confident

620 residues

Confidence breakdown

Very high(≥ 90)71%
Confident(70–90)14%
Low(50–70)8%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Dilated and arrhythmogenic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hypotaurinemic retinal degeneration and cardiomyopathy
0.44
cardiomyopathy
0.42
retinal degeneration
0.34
Retinal dystrophy
0.34
revision of total joint arthroplasty
0.30
aseptic loosening
0.24
uveal melanoma
0.18
secondary malignant neoplasm
0.16
retinitis pigmentosa
0.11
Progressive cone dystrophy
0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Sodium- and chloride-dependent taurine transporter

Mediates sodium- and chloride-dependent transport of taurine, a key amino acid (PubMed:31345061, PubMed:31903486, PubMed:39837997, PubMed:40108165, PubMed:40108449, PubMed:40615403, PubMed:40789850, PubMed:41269860, PubMed:41652173, PubMed:8010975, PubMed:8382624, PubMed:8654117). Taurine acts as an anti-aging agent by reducing cellular senescence and combating oxidative stress: levels decline with age and supplementation has been shown to extend lifespan (By similarity). In addition to mediate extracellular taurine uptake, also able to mediate transport of taurine into mitochondria, sustaining mitochondrial translation (PubMed:41652173). Can also mediate transport of beta-alanine, hypotaurine and gamma-aminobutyric acid (GABA) (PubMed:39837997, PubMed:40108165, PubMed:40789850, PubMed:41269860, PubMed:8010975)