Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
SLC6A8

SLC6A8

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.

Read more about gene names and symbols on the About page.

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? 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.

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? in the Handbook.

Where can I find additional information about SLC6A8?

You and your healthcare professional may find the following resources about SLC6A8 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SLC6A8 gene or gene products?

  • creatine transporter 1
  • creatine transporter SLC6A8
  • CRT
  • CRTR
  • CT1
  • MGC87396
  • SC6A8_HUMAN
  • sodium- and chloride-dependent creatine transporter 1
  • solute carrier family 6 member 8
  • solute carrier family 6 (neurotransmitter transporter, creatine), member 8

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SLC6A8?

carrier ; chloride ; compound ; creatine ; deficiency ; disability ; gene ; protein ; sodium ; solute

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (14 links)

 

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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: June 2011
Published: December 16, 2014