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Genetics Home Reference: your guide to understanding genetic conditions
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SLC17A5

Reviewed February 2008

What is the official name of the SLC17A5 gene?

The official name of this gene is “solute carrier family 17 (anion/sugar transporter), member 5.”

SLC17A5 is the gene's official symbol. The SLC17A5 gene is also known by other names, listed below.

What is the normal function of the SLC17A5 gene?

The SLC17A5 gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials. Sialin moves a molecule called free sialic acid, which is produced when certain proteins and fats are broken down, out of the lysosomes to other parts of the cell. Free sialic acid means that the sialic acid is not attached (bound) to other molecules.

Researchers believe that sialin may also have other functions in brain cells, in addition to those associated with the lysosomes, but these additional functions are not well understood.

Does the SLC17A5 gene share characteristics with other genes?

The SLC17A5 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 SLC17A5 gene related to health conditions?

sialic acid storage disease - caused by mutations in the SLC17A5 gene

Approximately 20 mutations that cause sialic acid storage disease have been identified in the SLC17A5 gene. Some of these mutations result in sialin that does not function normally; others prevent sialin from being produced. In a few cases, sialin is produced but not routed properly to the lysosomal membrane.

There are three forms of sialic acid storage disease. A particular SLC17A5 mutation, found primarily in people from Finland and Sweden, causes the least severe form of this disorder known as Salla disease. This mutation replaces the protein building block (amino acid) arginine with the amino acid cysteine at position 39 of the sialin protein (written as Arg39Cys or R39C). Other SLC17A5 gene mutations that have more damaging effects on sialin protein function cause the most severe form of the disorder, infantile free sialic acid storage disease. Individuals diagnosed with intermediate severe Salla disease have one copy of the SLC17A5 gene with the Salla disease mutation in each cell, while the second copy of the gene bears a more severe mutation. The severity of signs and symptoms of intermediate severe Salla disease falls between those of Salla disease and infantile free sialic acid storage disease.

SLC17A5 gene mutations that reduce or eliminate sialin activity result in a buildup of free sialic acid in the lysosomes. It is not known how this buildup, or disruption of other possible functions of sialin in the brain, causes the specific signs and symptoms of sialic acid storage disease.

Where is the SLC17A5 gene located?

Cytogenetic Location: 6q13

Molecular Location on chromosome 6: base pairs 74,303,101 to 74,363,736

The SLC17A5 gene is located on the long (q) arm of chromosome 6 at position 13.

The SLC17A5 gene is located on the long (q) arm of chromosome 6 at position 13.

More precisely, the SLC17A5 gene is located from base pair 74,303,101 to base pair 74,363,736 on chromosome 6.

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 SLC17A5?

You and your healthcare professional may find the following resources about SLC17A5 helpful.

  • Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1470/)

  • Genetic Testing Registry - Repository of genetic test information

    • GTR: Genetic tests for SLC17A5 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=26503%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=(sialic%20acid%20storage%20disease%5BTIAB%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/604322)

  • Research Resources - Tools for researchers

    • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/26503)
    • GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=26503)
    • HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=10933)

What other names do people use for the SLC17A5 gene or gene products?

  • AST
  • ISSD
  • NSD
  • S17A5_HUMAN
  • SD
  • SIALIN
  • SIASD
  • SLD
  • solute carrier family 17, member 5

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 SLC17A5?

amino acid ; anion ; carrier ; cell ; gene ; molecule ; mutation ; protein ; sialic acid ; solute

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

References

  • Aula N, Kopra O, Jalanko A, Peltonen L. Sialin expression in the CNS implicates extralysosomal function in neurons. Neurobiol Dis. 2004 Mar;15(2):251-61. (http://www.ncbi.nlm.nih.gov/pubmed/15006695?dopt=Abstract)
  • Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/26503)
  • Eskelinen EL, Tanaka Y, Saftig P. At the acidic edge: emerging functions for lysosomal membrane proteins. Trends Cell Biol. 2003 Mar;13(3):137-45. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12628346?dopt=Abstract)
  • Mach L. Biosynthesis of lysosomal proteinases in health and disease. Biol Chem. 2002 May;383(5):751-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12108539?dopt=Abstract)
  • Morin P, Sagné C, Gasnier B. Functional characterization of wild-type and mutant human sialin. EMBO J. 2004 Nov 24;23(23):4560-70. Epub 2004 Oct 28. (http://www.ncbi.nlm.nih.gov/pubmed/15510212?dopt=Abstract)
  • OMIM: SOLUTE CARRIER FAMILY 17 (SODIUM PHOSPHATE COTRANSPORTER), MEMBER 5 (http://omim.org/entry/604322)
  • Suwannarat P. Disorders of free sialic acid. Mol Genet Metab. 2005 Jun;85(2):85-7. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15973781?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: February 2008
Published: May 20, 2013