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Genetics Home Reference: your guide to understanding genetic conditions
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SLC5A1

Reviewed July 2007

What is the official name of the SLC5A1 gene?

The official name of this gene is “solute carrier family 5 (sodium/glucose cotransporter), member 1.”

SLC5A1 is the gene's official symbol. The SLC5A1 gene is also known by other names, listed below.

What is the normal function of the SLC5A1 gene?

The SLC5A1 gene provides instructions for producing a sodium/glucose cotransporter protein called SGLT1. This protein is found mainly in the intestinal tract and, to a lesser extent, in the kidneys, where it is involved in transporting glucose and the structurally similar galactose across cell membranes. Glucose and galactose are called simple sugars, or monosaccharides. They are obtained directly from the diet and from the breakdown of larger sugars and carbohydrates.

The sodium/glucose cotransporter protein is important in the functioning of the intestinal epithelial cells, which are cells that line the walls of the intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. The sodium/glucose cotransporter protein is involved in the process of using energy to move glucose and galactose across the brush border membrane for absorption, a mechanism called active transport. Sodium and water are transported across the brush border along with the sugars in this process.

Does the SLC5A1 gene share characteristics with other genes?

The SLC5A1 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 SLC5A1 gene related to health conditions?

glucose-galactose malabsorption - caused by mutations in the SLC5A1 gene

More than 40 mutations that cause glucose-galactose malabsorption have been identified in the SLC5A1 gene. Some mutations result in a protein that is too short and does not function. Other mutations result in a protein that is of normal length but that is not folded properly, preventing it from being moved to the cell membrane where it is needed.

Mutations that prevent the sodium/glucose cotransporter protein from performing its function result in a buildup of glucose and galactose in the intestinal tract. This failure of active transport prevents the glucose and galactose from being absorbed and providing nourishment to the body. In addition, the water that normally would have been transported across the brush border with the sugar instead remains in the intestinal tract to be excreted with the stool, resulting in dehydration of the body's tissues and severe diarrhea.

Where is the SLC5A1 gene located?

Cytogenetic Location: 22q12.3

Molecular Location on chromosome 22: base pairs 32,439,018 to 32,509,015

The SLC5A1 gene is located on the long (q) arm of chromosome 22 at position 12.3.

The SLC5A1 gene is located on the long (q) arm of chromosome 22 at position 12.3.

More precisely, the SLC5A1 gene is located from base pair 32,439,018 to base pair 32,509,015 on chromosome 22.

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 SLC5A1?

You and your healthcare professional may find the following resources about SLC5A1 helpful.

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for SLC5A1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6523%5Bgeneid%5D)

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

  • PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=(SLC5A1%5BTIAB%5D)%20OR%20((NAGT%5BTIAB%5D)%20OR%20(SGLT1%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
  • OMIM - Genetic disorder catalog (http://omim.org/entry/182380)

  • Research Resources - Tools for researchers

    • Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SLC5A1.html)
    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6523)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=6523)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=11036)

What other names do people use for the SLC5A1 gene or gene products?

  • D22S675
  • Human Na+/glucose cotransporter 1 mRNA, complete cds
  • NAGT
  • SC5A1_HUMAN
  • SGLT1
  • solute carrier family 5 (sodium/glucose transporter), member 1

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 SLC5A1?

brush border ; carrier ; cell ; cell membrane ; dehydration ; epithelial ; galactose ; gene ; glucose ; intestine ; malabsorption ; microvilli ; mRNA ; Na ; protein ; sodium ; solute ; stool

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Brown GK. Glucose transporters: structure, function and consequences of deficiency. J Inherit Metab Dis. 2000 May;23(3):237-46. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10863940?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/6523)
  • Lam JT, Martín MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, Wright EM. Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects. Biochim Biophys Acta. 1999 Feb 24;1453(2):297-303. (http://www.ncbi.nlm.nih.gov/pubmed/10036327?dopt=Abstract)
  • OMIM: SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1 (http://omim.org/entry/182380)
  • Wright EM, Hirayama BA, Loo DF. Active sugar transport in health and disease. J Intern Med. 2007 Jan;261(1):32-43. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17222166?dopt=Abstract)
  • Wright EM, Martín MG, Turk E. Intestinal absorption in health and disease--sugars. Best Pract Res Clin Gastroenterol. 2003 Dec;17(6):943-56. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14642859?dopt=Abstract)
  • Wright EM, Turk E, Martin MG. Molecular basis for glucose-galactose malabsorption. Cell Biochem Biophys. 2002;36(2-3):115-21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12139397?dopt=Abstract)
  • Wright EM, Turk E. The sodium/glucose cotransport family SLC5. Pflugers Arch. 2004 Feb;447(5):510-8. Epub 2003 May 14. Review. Erratum in: Pflugers Arch. 2004 Feb;447(5):813-5. (http://www.ncbi.nlm.nih.gov/pubmed/12748858?dopt=Abstract)
  • Wright EM. I. Glucose galactose malabsorption. Am J Physiol. 1998 Nov;275(5 Pt 1):G879-82. Review. (http://www.ncbi.nlm.nih.gov/pubmed/9815014?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: July 2007
Published: May 20, 2013