SLC6A8

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SLC6A8

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Name
Normal function
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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, creatine), 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 152,953,751 to 152,962,047

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 152,953,751 to base pair 152,962,047 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.

Gene Reviews - Clinical summary
Genetic Testing Registry - Repository of genetic test information (1 link)

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

PubMed - Recent literature
OMIM - Genetic disorder catalog
Research Resources - Tools for researchers (3 links)

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

See How are genetic conditions and genes named? in the Handbook.

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 ; deficiency ; gene ; protein ; sodium ; solute

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

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.