SLC6A6
Solute Carrier Family 6 Member 6
Gene Information Card
| Symbol | SLC6A6 |
|---|---|
| Full Name | Solute Carrier Family 6 Member 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.1 |
| NCBI Gene ID | 6533 ncbi.nlm.nih.gov/gene/6533 |
| Ensembl ID | ENSG00000131374 |
| UniProt ID | P31641 |
| OMIM ID | 186854 |
| HGNC ID | 11052 |
| Aliases | TAUT, TAUT1 |
Description
SLC6A6 encodes the taurine transporter (TAUT), a sodium- and chloride-dependent transmembrane protein responsible for the cellular uptake of taurine, a beta-amino acid essential for osmoregulation, calcium signaling, and antioxidant defense. The gene is expressed in multiple tissues and plays a critical role in maintaining taurine homeostasis. Mutations in SLC6A6 are associated with retinal degeneration and cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal dystrophy | Loss-of-function mutations impair taurine transport in retinal pigment epithelium, leading to photoreceptor degeneration | ClinVar, OMIM |
| Cardiomyopathy | Defective taurine uptake in cardiac myocytes disrupts osmoregulation and calcium handling | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | High |
| Heart | High | High |
| Skeletal muscle | Medium | Medium |
| Brain | Medium | Medium |
| Kidney | Medium | Medium |
| Liver | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | High | Endogenous expression |
| HEK293 | Medium | Common model for transport assays |
| H9c2 (cardiomyocytes) | Medium | Cardiac model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.127C>T (p.Arg43*) | Nonsense | Rare | Loss of function |
| c.1075G>A (p.Gly359Arg) | Missense | Rare | Loss of function |
| c.1642C>T (p.Arg548Trp) | Missense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish taurine transport activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Taurine and hypotaurine metabolism (Reactome: R-HSA-2408522)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
The SLC6A6 protein (TAUT) is a 620-amino acid integral membrane protein with 12 transmembrane domains. It mediates the electrogenic symport of taurine with two sodium ions and one chloride ion. TAUT is essential for taurine accumulation in cells, particularly in retina and heart, where taurine acts as an osmolyte and modulator of calcium homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC6A6 Knockout HEK293 Cell Line | EDJ-KQ5770 | Human | 6533 | Details Get a Quote |
| SLC6A6 Knockout HeLa Cell Line | EDJ-KQ27931 | Human | 6533 | Details Get a Quote |
| SLC6A6 Knockout A-549 Cell Line | EDJ-KQ29187 | Human | 6533 | Details Get a Quote |
| SLC6A6 Knockout HCT 116 Cell Line | EDC08393 | Human | 6533 | Details Get a Quote |
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