Slc6a8 Gene Summary [Mouse]

Enables creatine:sodium symporter activity. Predicted to be involved in several processes, including creatine transmembrane transport; protein catabolic process; and sodium ion transmembrane transport. Predicted to be located in apical plasma membrane. Predicted to be active in glutamatergic synapse and postsynaptic membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and sensory organ. Used to study cerebral creatine deficiency syndrome 1. Human ortholog(s) of this gene implicated in cerebral creatine deficiency syndrome 1 and intellectual disability. Orthologous to human SLC6A8 (solute carrier family 6 member 8). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Slc6a8
Official Name
solute carrier family 6 (neurotransmitter transporter, creatine), member 8 [Source:MGI Symbol;Acc:MGI:2147834]
Ensembl ID
ENSMUSG00000019558
Bio databases IDs NCBI: 102857 Ensembl: ENSMUSG00000019558
Aliases solute carrier family 6 (neurotransmitter transporter, creatine), member 8
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
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse 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
regulated by
regulates
  • acetylcholine
  • creatine
  • ZAP70
  • NFAT (family)
  • JUN
  • PRKAA2
  • 5-hydroxytryptamine
  • adenosine triphosphate
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 mouse 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

Gene-Specific Assays for Results You Can Trust

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