Reviewed June 2011
What is the official name of the SLC6A8 gene?
The official name of this gene is “solute carrier family 6 (neurotransmitter transporter), member 8.”
SLC6A8 is the gene's official symbol. The SLC6A8 gene is also known by other names, listed below.
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.
Does the SLC6A8 gene share characteristics with other genes?
The SLC6A8 gene belongs to a family of genes called SLC (solute carriers).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the SLC6A8 gene related to health conditions?
- X-linked creatine deficiency - caused by mutations in the SLC6A8 gene
At least 20 mutations in the SLC6A8 gene have been identified in people with X-linked creatine deficiency, a disorder that causes intellectual disability, behavioral problems, seizures, and muscle weakness. SLC6A8 gene mutations impair the ability of the transporter protein to bring creatine into cells, resulting in a creatine shortage (deficiency). The effects of creatine deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.
Where is the SLC6A8 gene located?
Cytogenetic Location: Xq28
Molecular Location on the X chromosome: base pairs 153,688,296 to 153,696,592
The SLC6A8 gene is located on the long (q) arm of the X chromosome at position 28.
More precisely, the SLC6A8 gene is located from base pair 153,688,296 to base pair 153,696,592 on the X chromosome.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about SLC6A8?
You and your healthcare professional may find the following resources about SLC6A8 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK3794)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for SLC6A8 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6535%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog (http://omim.org/entry/300036)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6535)
- HGNC Gene Family: Solute carriers (http://www.genenames.org/genefamilies/SLC)
- HGNC Gene Symbol Report (http://www.genenames.org/data/hgnc_data.php?hgnc_id=11055)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6535)
What other names do people use for the SLC6A8 gene or gene products?
- creatine transporter 1
- creatine transporter SLC6A8
- sodium- and chloride-dependent creatine transporter 1
- solute carrier family 6 member 8
- solute carrier family 6 (neurotransmitter transporter, creatine), member 8
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding SLC6A8?
You may find definitions for these and many other terms in the Genetics Home Reference
- Anselm IA, Coulter DL, Darras BT. Cardiac manifestations in a child with a novel mutation in creatine transporter gene SLC6A8. Neurology. 2008 Apr 29;70(18):1642-4. doi: 10.1212/01.wnl.0000310987.04106.45. (http://www.ncbi.nlm.nih.gov/pubmed/18443316?dopt=Abstract)
- Béard E, Braissant O. Synthesis and transport of creatine in the CNS: importance for cerebral functions. J Neurochem. 2010 Oct;115(2):297-313. doi: 10.1111/j.1471-4159.2010.06935.x. Epub 2010 Aug 25. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20796169?dopt=Abstract)
- Braissant O, Henry H, Béard E, Uldry J. Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids. 2011 May;40(5):1315-24. doi: 10.1007/s00726-011-0852-z. Epub 2011 Mar 10. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21390529?dopt=Abstract)
- Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet. 2006 Jul;119(6):604-10. Epub 2006 Apr 26. (http://www.ncbi.nlm.nih.gov/pubmed/16738945?dopt=Abstract)
- deGrauw TJ, Salomons GS, Cecil KM, Chuck G, Newmeyer A, Schapiro MB, Jakobs C. Congenital creatine transporter deficiency. Neuropediatrics. 2002 Oct;33(5):232-8. (http://www.ncbi.nlm.nih.gov/pubmed/12536364?dopt=Abstract)
- Nasrallah F, Feki M, Kaabachi N. Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Pediatr Neurol. 2010 Mar;42(3):163-71. doi: 10.1016/j.pediatrneurol.2009.07.015. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20159424?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6535)
- Rosenberg EH, Martínez Muñoz C, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum Mutat. 2007 Sep;28(9):890-6. (http://www.ncbi.nlm.nih.gov/pubmed/17465020?dopt=Abstract)
- Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Am J Hum Genet. 2001 Jun;68(6):1497-500. Epub 2001 Apr 20. (http://www.ncbi.nlm.nih.gov/pubmed/11326334?dopt=Abstract)
- Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. X-linked creatine transporter defect: an overview. J Inherit Metab Dis. 2003;26(2-3):309-18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12889669?dopt=Abstract)
- Schulze A. Creatine deficiency syndromes. Mol Cell Biochem. 2003 Feb;244(1-2):143-50. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12701824?dopt=Abstract)
- OMIM: SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, CREATINE), MEMBER 8 (http://omim.org/entry/300036)
- Stromberger C, Bodamer OA, Stöckler-Ipsiroglu S. Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. J Inherit Metab Dis. 2003;26(2-3):299-308. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12889668?dopt=Abstract)
- Sykut-Cegielska J, Gradowska W, Mercimek-Mahmutoglu S, Stöckler-Ipsiroglu S. Biochemical and clinical characteristics of creatine deficiency syndromes. Acta Biochim Pol. 2004;51(4):875-82. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15625559?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.