SLCtables

SLC6A8

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
Disease: (OMIM: 300036 300352) Defects in SLC6A8 are the cause of X-linked creatine deficiency syndrome (XL-CDS) [MIM:300352]. XL-CDS causes developmental delay, hypotonia, mental retardation, seizures, short stature and midface hypoplasia
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

87 - 87 G -> R (in XL-CDS). VAR_020525
132 - 132 G -> V (in XL-CDS). VAR_063707
164 - 164 T -> S (in dbSNP:rs642454). VAR_034483 642454
337 - 337 C -> W (in XL-CDS). VAR_063708
381 - 381 G -> R (in XL-CDS). VAR_020526
390 - 390 P -> L (in XL-CDS). VAR_020527
408 - 408 Missing (in XL-CDS). VAR_020528
491 - 491 C -> W (in XL-CDS). VAR_063709
554 - 554 P -> L (in XL-CDS). VAR_020529
560 - 560 M -> V. VAR_063710