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Gene: SLC6A8 (solute carrier family 6 member 8) Homo sapiens
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Symbol: SLC6A8
Name: solute carrier family 6 member 8
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CCDS1; creatine transporter 1; creatine transporter SLC6A8; creatine transporter SLC6A8 variant D; CRT; CRTR; CT1; CTR5; MGC87396; sodium- and chloride-dependent creatine transporter 1; solute carrier family 6 (neurotransmitter transporter), member 8; solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Orthologs:
Mus musculus (house mouse) : Slc6a8 (solute carrier family 6 (neurotransmitter transporter, creatine), member 8)  MGI  Alliance
Rattus norvegicus (Norway rat) : Slc6a8 (solute carrier family 6 member 8)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Slc6a8 (solute carrier family 6 member 8)
Pan paniscus (bonobo/pygmy chimpanzee) : SLC6A8 (solute carrier family 6 member 8)
Canis lupus familiaris (dog) : SLC6A8 (solute carrier family 6 member 8)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Slc6a8 (solute carrier family 6 member 8)
Sus scrofa (pig) : SLC6A8 (solute carrier family 6 member 8)
more info ...
Related Pseudogenes: SLC6A10P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,688,297 - 153,696,593 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X152,953,752 - 152,962,048 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,606,586 - 152,615,234 (+)NCBINCBI36hg18NCBI36
Build 34X152,474,238 - 152,482,887NCBI
CeleraX153,187,436 - 153,195,732 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,612,842 - 141,619,133 (+)NCBIHuRef
CHM1_1X152,828,182 - 152,836,459 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SLC6A8
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1342978
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.