SLC6A8 Gene Summary [Human]
The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Details
| Type | Protein Coding |
| Official Symbol | SLC6A8 |
| Official Name | solute carrier family 6 member 8 [Source:HGNC Symbol;Acc:HGNC:11055] |
| Ensembl ID | ENSG00000130821 |
| Bio databases IDs | |
| Aliases | solute carrier family 6 member 8, creatine transporter |
| Synonyms | CCDS1, CHOT1, CHT1, CREAT, Creatine Transporter, CRT, CRT-1, CRTR, CT1, CTR5, solute carrier family 6 member 8, solute carrier family 6 (neurotransmitter transporter, creatine), member 8 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SLC6A8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sodium:neurotransmitter symporter family
- choline transporter
- creatine:sodium symporter
- Solute carrier families 5 and 6-like; solute binding domain
- transporter
- creatine transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- renal cell carcinoma
- creatine deficiency syndrome 1
- hereditary disorder
- Duchenne muscular dystrophy
- COVID-19
- mental retardation
- epilepsy
- renal cell cancer
- creatine deficiency syndrome
- dilated cardiomyopathy
role in cell
- survival
- activation in
- shuttling in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- glutaminergic synapse
- intracellular space
- cellular membrane
- Plasma Membrane
- Mitochondria
- apical membrane
- postsynaptic membrane
- mitochondrial inner membrane
- synapse
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SLC6A8 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neurotransmitter transport
- nitrogen compound transport
- creatine transport
- muscle contraction
- sodium ion transmembrane transport
- creatine metabolic process
- gamma-aminobutyric acid transport
- amino acid transport
Cellular Component
Where in the cell the gene product is active
- membrane
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- creatine:sodium symporter activity
- creatine transporter activity
- gamma-aminobutyric acid:sodium symporter activity