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Genetics Home Reference: your guide to understanding genetic conditions
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SLC7A7

Reviewed March 2008

What is the official name of the SLC7A7 gene?

The official name of this gene is “solute carrier family 7 (amino acid transporter light chain, y+L system), member 7.”

SLC7A7 is the gene's official symbol. The SLC7A7 gene is also known by other names, listed below.

What is the normal function of the SLC7A7 gene?

The SLC7A7 gene provides instructions for producing a protein called y+L amino acid transporter 1 (y+LAT-1), which is involved in transporting certain building blocks of protein (amino acids), namely lysine, arginine, and ornithine. The transportation of amino acids from the small intestines and kidneys to the rest of the body is necessary for the body to be able to use proteins. The y+LAT-1 protein forms one part (the light subunit) of a complex called the heterodimeric cationic amino acid transporter. This subunit is responsible for binding to the amino acids that are transported.

Does the SLC7A7 gene share characteristics with other genes?

The SLC7A7 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 SLC7A7 gene related to health conditions?

lysinuric protein intolerance - caused by mutations in the SLC7A7 gene

More than 40 mutations in the SLC7A7 gene have been found to cause lysinuric protein intolerance. All of these mutations impair the y+LAT-1 protein's ability to transport amino acids. People with lysinuric protein intolerance who are of Finnish descent typically have the same mutation. This mutation (written as IVS6-2A>T) disrupts the way the gene's instructions are used to make the y+LAT-1 protein, causing the protein to be misplaced in the cell.

Mutations in the y+LAT-1 protein disrupt the transportation of amino acids, leading to a shortage of lysine, arginine, and ornithine in the body and an abnormally large amount of these amino acids in urine. The abnormal transportation and shortage of these amino acids in various tissues of the body leads to the signs and symptoms of lysinuric protein intolerance.

Where is the SLC7A7 gene located?

Cytogenetic Location: 14q11.2

Molecular Location on chromosome 14: base pairs 22,773,221 to 22,819,810

The SLC7A7 gene is located on the long (q) arm of chromosome 14 at position 11.2.

The SLC7A7 gene is located on the long (q) arm of chromosome 14 at position 11.2.

More precisely, the SLC7A7 gene is located from base pair 22,773,221 to base pair 22,819,810 on chromosome 14.

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 SLC7A7?

You and your healthcare professional may find the following resources about SLC7A7 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 SLC7A7 gene or gene products?

  • LAT3
  • LPI
  • Y+LAT1
  • y+LAT-1
  • YLAT1_HUMAN

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 SLC7A7?

acids ; amino acid ; arginine ; carrier ; cell ; gene ; lysine ; mutation ; protein ; solute ; subunit

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

References

  • Chillarón J, Roca R, Valencia A, Zorzano A, Palacín M. Heteromeric amino acid transporters: biochemistry, genetics, and physiology. Am J Physiol Renal Physiol. 2001 Dec;281(6):F995-1018. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11704550?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9056)
  • Palacín M, Bertran J, Chillarón J, Estévez R, Zorzano A. Lysinuric protein intolerance: mechanisms of pathophysiology. Mol Genet Metab. 2004 Apr;81 Suppl 1:S27-37. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15050971?dopt=Abstract)
  • Palacín M, Nunes V, Font-Llitjós M, Jiménez-Vidal M, Fort J, Gasol E, Pineda M, Feliubadaló L, Chillarón J, Zorzano A. The genetics of heteromeric amino acid transporters. Physiology (Bethesda). 2005 Apr;20:112-24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15772300?dopt=Abstract)
  • OMIM: SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 7 (http://omim.org/entry/603593)
  • Sperandeo MP, Andria G, Sebastio G. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene. Hum Mutat. 2008 Jan;29(1):14-21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17764084?dopt=Abstract)
  • Sperandeo MP, Annunziata P, Ammendola V, Fiorito V, Pepe A, Soldovieri MV, Taglialatela M, Andria G, Sebastio G. Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene. Hum Mutat. 2005 Apr;25(4):410. (http://www.ncbi.nlm.nih.gov/pubmed/15776427?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: March 2008
Published: December 22, 2014