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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.
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.
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.
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.
Cytogenetic Location: 14q11.2
Molecular Location on chromosome 14: base pairs 23,242,430 to 23,289,019
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 23,242,430 to base pair 23,289,019 on chromosome 14.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; amino acid ; carrier ; cell ; gene ; 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).
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.