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Genetics Home Reference: your guide to understanding genetic conditions
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SLC7A9

Reviewed January 2009

What is the official name of the SLC7A9 gene?

The official name of this gene is “solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9.”

SLC7A9 is the gene's official symbol. The SLC7A9 gene is also known by other names, listed below.

What is the normal function of the SLC7A9 gene?

The SLC7A9 gene provides instructions for producing one part (subunit) of a protein made primarily in the kidneys. This subunit joins with another protein subunit, produced from the SLC3A1 gene, to form a transporter protein complex. During the process of urine formation in the kidneys, this protein complex absorbs particular protein building blocks (amino acids) back into the blood. In particular, the amino acids cystine, ornithine, arginine, and lysine are absorbed back into the blood through this mechanism.

Does the SLC7A9 gene share characteristics with other genes?

The SLC7A9 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 SLC7A9 gene related to health conditions?

cystinuria - caused by mutations in the SLC7A9 gene

At least 95 mutations in the SLC7A9 gene have been found to cause cystinuria. Many of these mutations alter a single DNA building block (nucleotide) or insert or delete a small number of nucleotides in the SLC7A9 gene. These changes lead to an abnormally functioning transporter protein complex, which causes certain amino acids to become concentrated in the urine. Cystine is the only amino acid that forms crystals and stones in the bladder or kidneys, leading to the signs and symptoms of cystinuria.

Where is the SLC7A9 gene located?

Cytogenetic Location: 19q13.1

Molecular Location on chromosome 19: base pairs 32,830,510 to 32,869,776

The SLC7A9 gene is located on the long (q) arm of chromosome 19 at position 13.1.

The SLC7A9 gene is located on the long (q) arm of chromosome 19 at position 13.1.

More precisely, the SLC7A9 gene is located from base pair 32,830,510 to base pair 32,869,776 on chromosome 19.

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 SLC7A9?

You and your healthcare professional may find the following resources about SLC7A9 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 SLC7A9 gene or gene products?

  • b0,+AT
  • BAT1_HUMAN
  • CSNU3
  • solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9
  • solute carrier family 7, member 9

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 SLC7A9?

acids ; amino acid ; arginine ; carrier ; cysteine ; cystine ; DNA ; gene ; lysine ; nucleotide ; 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

  • Dello Strologo L, Pras E, Pontesilli C, Beccia E, Ricci-Barbini V, de Sanctis L, Ponzone A, Gallucci M, Bisceglia L, Zelante L, Jimenez-Vidal M, Font M, Zorzano A, Rousaud F, Nunes V, Gasparini P, Palacín M, Rizzoni G. Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol. 2002 Oct;13(10):2547-53. (http://www.ncbi.nlm.nih.gov/pubmed/12239244?dopt=Abstract)
  • Fernández E, Carrascal M, Rousaud F, Abián J, Zorzano A, Palacín M, Chillarón J. rBAT-b(0,+)AT heterodimer is the main apical reabsorption system for cystine in the kidney. Am J Physiol Renal Physiol. 2002 Sep;283(3):F540-8. (http://www.ncbi.nlm.nih.gov/pubmed/12167606?dopt=Abstract)
  • Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet. 2005 Jan;42(1):58-68. (http://www.ncbi.nlm.nih.gov/pubmed/15635077?dopt=Abstract)
  • Font MA, Feliubadaló L, Estivill X, Nunes V, Golomb E, Kreiss Y, Pras E, Bisceglia L, d'Adamo AP, Zelante L, Gasparini P, Bassi MT, George AL Jr, Manzoni M, Riboni M, Ballabio A, Borsani G, Reig N, Fernández E, Zorzano A, Bertran J, Palacín M; International Cystinuria Consortium. Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. Hum Mol Genet. 2001 Feb 15;10(4):305-16. (http://www.ncbi.nlm.nih.gov/pubmed/11157794?dopt=Abstract)
  • Goodyer P. The molecular basis of cystinuria. Nephron Exp Nephrol. 2004;98(2):e45-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15499206?dopt=Abstract)
  • Langman CB. The molecular basis of kidney stones. Curr Opin Pediatr. 2004 Apr;16(2):188-93. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15021200?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/11136)
  • OMIM: SOLUTE CARRIER FAMILY 7 (CATIONIC AMINO ACID TRANSPORTER, y+ SYSTEM), MEMBER 9 (http://omim.org/entry/604144)
  • Schmidt C, Vester U, Wagner CA, Lahme S, Hesse A, Hoyer P, Lang F, Zerres K, Eggermann T; Arbeitsgemeinschaft für Pädiatrische Nephrologie. Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria. Kidney Int. 2003 Nov;64(5):1564-72. (http://www.ncbi.nlm.nih.gov/pubmed/14531788?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: January 2009
Published: July 7, 2014