Reviewed March 2008
What is the official name of the SLC7A7 gene?
The official name of this gene is “solute carrier family 7 (cationic amino acid transporter, y+ 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? in the Handbook.
How are changes in the SLC7A7 gene related to health conditions?
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lysinuric protein intolerance - caused by mutations in the SLC7A7 gene
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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 22,312,273 to 22,354,851
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 22,312,273 to base pair 22,354,851 on chromosome 14.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SLC7A7?
What other names do people use for the SLC7A7 gene or gene products?
- LAT3
- LPI
- y+LAT-1
- Y+LAT1
- YLAT1_HUMAN
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 SLC7A7?
acids ;
amino acid ;
carrier ;
cell ;
gene ;
intestine ;
kidney ;
mutation ;
protein ;
sign ;
solute ;
subunit ;
symptom ;
tissue
You may find definitions for these and many other terms in the Genetics Home Reference
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? in the Handbook.
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