Protein name: N/D Aliases: CRTR, CT1 Substrates: creatine Transport type: N/D Tissue and cellular expression: ubiquitous Subcellular expression: N/D Disease: creatine deficiency syndrome, mental retardation, musculoskeletal disorders, cardiomyopathy Locus: Xq28 Sequence ID: NP_001136277.1, NM_001142805.1 NP_001136278.1, NM_001142806.1 NP_005620.1, NM_005629.3 Gene ID: 6535 Splice variants: N/D

SC6A8_HUMAN (UniProt)

Gene names: SLC6A8
Protein names and data: SC6A8_HUMAN, Full=Sodium- and chloride-dependent creatine transporter 1;Short=CT1;Short=Creatine transporter 1, Full=Solute carrier family 6 member 8; Length: 635 a.a., Mass: 70523 Da,
fasta formatted sequence

Function: Required for the uptake of creatine in muscles and brain
Cellular location: Membrane; Multi-pass membrane protein
Tissue specificity: Predominantly expressed in skeletal muscle and kidney. Also found in brain, heart, colon, testis and prostate

Database cross-references

UniProt: P48029
NextBio: 25427
OMIM: 300036 300352
Ensembl: ENST00000253122
GeneCard: GC0XP153688
PharmGenUCSF: SLC6A8
Guide to Pharmacology: SLC6A8 (934)
GABA transporter subfamily (934)

HGNC: HGNC:11055

Genetic variants

See also Ensembl:ENST00000253122