solute carrier family 6 (neurotransmitter transporter), member 8
Symbol
SLC6A8
(may also be known as: None)
Organism
Human
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]
Orthologs
Symbol | Species | |
---|---|---|
slc6a8 | Danio rerio | |
Slc6a8 | Mus musculus | |
Slc6a8 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
GO ID | GO Term | GO Category | |
---|---|---|---|
GO:0006600 | creatine metabolic process | biological_process | |
GO:0006810 | transport | biological_process | |
GO:0006811 | ion transport | biological_process | |
GO:0006814 | sodium ion transport | biological_process | |
GO:0006836 | neurotransmitter transport | biological_process | |
GO:0006936 | muscle contraction | biological_process | |
GO:0015881 | creatine transport | biological_process | |
GO:0034641 | cellular nitrogen compound metabolic process | biological_process | |
GO:0044281 | small molecule metabolic process | biological_process | |
GO:0005886 | plasma membrane | cellular_component | |
GO:0005887 | integral to plasma membrane | cellular_component | |
GO:0016020 | membrane | cellular_component | |
GO:0016021 | integral to membrane | cellular_component | |
GO:0005308 | creatine transporter activity | molecular_function | |
GO:0005309 | creatine:sodium symporter activity | molecular_function | |
GO:0005328 | neurotransmitter:sodium symporter activity | molecular_function | |
GO:0015220 | choline transmembrane transporter activity | molecular_function | |
GO:0015293 | symporter activity | molecular_function | |