Gene Symbol | SLC6A8 |
Entrez Gene ID | 6535 |
Full Name | solute carrier family 6 member 8 |
Synonyms | CCDS1,CRT,CRTR,CT1,CTR5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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: | |
Disorder Html: | Cerebral creatine deficiency syndrome 1, 300352 (3) |