SLC6A8
Function
Creatine:sodium symporter which mediates the uptake of creatine (PubMed:17465020, PubMed:22644605, PubMed:25861866, PubMed:7945388, PubMed:7953292, PubMed:9882430). Plays an important role in supplying creatine to the brain via the blood-brain barrier (By similarity).
Involvement in disease
Cerebral creatine deficiency syndrome 1
CCDS1
An X-linked disorder of creatine transport characterized by intellectual disability, severe speech delay, behavioral abnormalities, and seizures. Carrier females may show mild neuropsychologic impairment.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Glycosylated.
Sequence Similarities
Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A8 subfamily.
Tissue Specificity
Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Apical cell membrane
- Multi-pass membrane protein
Alternative names
Sodium- and chloride-dependent creatine transporter 1, CT1, Creatine transporter 1, Solute carrier family 6 member 8, SLC6A8