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SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001142805 Homo sapiens solute carrier family 6 (neurotransmitter transporter), member 8 (SLC6A8), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_001142806 Homo sapiens solute carrier family 6 (neurotransmitter transporter), member 8 (SLC6A8), transcript variant 3, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12
NM_005629 Homo sapiens solute carrier family 6 (neurotransmitter transporter), member 8 (SLC6A8), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $639.00 $590.00 TBD

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Gene Symbol SLC6A8
Entrez Gene ID 6535
Full Name solute carrier family 6 (neurotransmitter transporter), member 8
Synonyms CCDS1, CRT, CRTR, CT1, CTR5
General protein information
Preferred Names
sodium- and chloride-dependent creatine transporter 1
Names
sodium- and chloride-dependent creatine transporter 1
creatine transporter 1
creatine transporter SLC6A8
solute carrier family 6 member 8
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq28

Summary 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].
Disorder

MIM: 300036

Creatine deficiency syndrome, X-linked, 300352 (3)

mRNA Protein Product Sequence Price Select
NM_001142805, 218563755 NP_001136277, 218563756 sodium- and chloride-dependent creatine transporter 1 isoform 2 ORF Sequence $700.00
NM_001142806, 218563757 NP_001136278, 218563758 sodium- and chloride-dependent creatine transporter 1 isoform 3 ORF Sequence $360.00
NM_005629, 218563759 NP_005620, 5032097 sodium- and chloride-dependent creatine transporter 1 isoform 1 ORF Sequence $490.00
Reactome
REACT_813Creatine metabolism
REACT_13Metabolism of amino acids and derivatives
REACT_111217Metabolism
Homo sapiens (human)SLC6A8NP_005620.1
Pan troglodytes (chimpanzee)SLC6A8XP_529227.4
Macaca mulatta (Rhesus monkey)SLC6A8XP_001086826.2
Canis lupus familiaris (dog)SLC6A8XP_005642051.1
Bos taurus (cattle)SLC6A8NP_777036.1
Mus musculus (house mouse)Slc6a8NP_001136281.1
Rattus norvegicus (Norway rat)Slc6a8NP_059044.1
Danio rerio (zebrafish)slc6a8XP_695932.1
Xenopus (Silurana) tropicalis (western clawed frog)LOC100489909XP_004916750.1
Process
IDNameEvidence
GO:0006600creatine metabolic processTAS
GO:0006810transportTAS
GO:0006814sodium ion transportIEA
GO:0006836neurotransmitter transportIEA
GO:0006936muscle contractionTAS
GO:0008150biological_processND
GO:0015871choline transportIEA
GO:0015881creatine transportNAS
GO:0034641cellular nitrogen compound metabolic processTAS
GO:0044281small molecule metabolic processTAS
GO:1902598creatine transmembrane transportIEA
GO:1902598creatine transmembrane transportNAS
GO:1902598creatine transmembrane transportTAS
Component
IDNameEvidence
GO:0005575cellular_componentND
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneIEA
GO:0016021integral component of membraneTAS
Function
IDNameEvidence
GO:0003674molecular_functionND
GO:0005308creatine transmembrane transporter activityNAS
GO:0005309creatine:sodium symporter activityIEA
GO:0005328neurotransmitter:sodium symporter activityIEA
GO:0015220choline transmembrane transporter activityIEA
GeneCards SLC6A8
UniProt Q59EV7, P48029, X5D9C4
Vega OTTHUMG00000024208
MIM 300036
Ensembl ENSG00000130821
HGNC 11055
HPRD 02073

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SLC6A8 gene?

The SLC6A8 gene provides instructions for making a protein called sodium- and chloride-dependent creatine transporter 1. This protein transports the compound creatine into cells. Creatine is needed for the body to store and use energy properly.

Interactant

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