SLC6A8 (Creatine Transporter Deficiency)
Solute Carrier Family 6 Member 8
Gene Information Card
| Symbol | SLC6A8 |
|---|---|
| Full Name | Solute Carrier Family 6 Member 8 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 6535 ncbi.nlm.nih.gov/gene/6535 |
| Ensembl ID | ENSG00000130821 |
| UniProt ID | P48029 |
| OMIM ID | 300036 |
| HGNC ID | 11055 |
| Aliases | CT1, CRTR, creatine transporter |
Description
SLC6A8 encodes the creatine transporter (CT1), a sodium- and chloride-dependent transmembrane protein that mediates the uptake of creatine into cells, particularly in muscle and brain. Mutations in this gene cause X-linked creatine transporter deficiency (CTD), characterized by intellectual disability, seizures, speech delay, and behavioral abnormalities. The gene is located on chromosome Xq28 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Creatine transporter deficiency (CTD) | Loss-of-function mutations impair creatine uptake, leading to cerebral creatine depletion and neurological symptoms. | ClinVar, OMIM #300352 |
| X-linked intellectual disability | Deficiency of creatine in the brain disrupts energy metabolism and neurotransmission. | OMIM #300036, NCBI GeneReviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | High |
| Brain | 8.3 | Medium |
| Heart | 7.1 | Medium |
| Kidney | 4.2 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 9.0 | Neuronal model |
| HEK293 (embryonic kidney) | 6.5 | Common expression system |
| Caco-2 (colon) | 3.2 | Intestinal epithelial |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1222C>T (p.Arg408*) | Nonsense | <1% | Loss of function; premature stop codon |
| c.1631C>T (p.Pro544Leu) | Missense | <1% | Impaired creatine transport activity |
| c.1167G>A (p.Trp389*) | Nonsense | <1% | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most reported mutations (nonsense, frameshift, missense) reduce or abolish creatine transport activity, leading to creatine deficiency in brain and muscle.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; X-linked recessive inheritance pattern.
View complete mutation data：
Gene Ontology (GO)
| • creatine transmembrane transporter activity (GO:0005329) | • amino acid transmembrane transporter activity (GO:0015171) |
| • membrane (GO:0016020) | • integral component of plasma membrane (GO:0005887) |
| • creatine transport (GO:0015824) | • transmembrane transport (GO:0055085) |
Pathways
• Creatine metabolism (Reactome: R-HSA-71288)
• Transport of inorganic cations/anions and amino acids/oligopeptides (Reactome: R-HSA-425393)
Protein Summary
The SLC6A8 protein (CT1) is a 635-amino acid transmembrane transporter with 12 putative membrane-spanning domains. It mediates the sodium- and chloride-dependent uptake of creatine into cells. Creatine is essential for energy storage and transfer in high-energy-demand tissues such as muscle and brain. Defects in CT1 lead to intracellular creatine depletion, causing neurological and muscular symptoms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC6A8 Knockout HEK293 Cell Line | EDJ-KQ5775 | Human | 6535 | Details Get a Quote |
| SLC6A8 Knockout HeLa Cell Line | EDJ-KQ27935 | Human | 6535 | Details Get a Quote |
| SLC6A8 Knockout A-549 Cell Line | EDJ-KQ29192 | Human | 6535 | Details Get a Quote |
| SLC6A8 Knockout HCT 116 Cell Line | EDJ-KQ29193 | Human | 6535 | Details Get a Quote |
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