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Genetics Home Reference: your guide to understanding genetic conditions
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SLC gene family

Reviewed October 2012

What are the SLC genes?

The SLC family includes approximately 300 genes that provide instructions for making proteins called solute carriers. Proteins in the SLC family transport various molecules across the membranes surrounding the cell and its component parts.

The SLC genes are often called a "superfamily" because they can be further categorized into dozens of smaller families based on the type of molecules their corresponding proteins transport. These families are indicated by the first number in the gene symbol, and the letter "A" followed by another number indicates the specific gene within that family. For example, SLC39A1 indicates the first member in family 39, the metal ion transporters.

Defects in many of the solute carrier genes are implicated in human diseases. When a solute carrier protein does not function properly, a particular type of molecule might not be able to make its way efficiently into the cell or cell compartment (organelle) where it is needed. Alternatively, a substance may not be able to be removed from the cell for disposal or use elsewhere, and may accumulate to toxic levels. Solute carrier proteins are also of interest for drug development research, for example in facilitating the delivery of a drug to its intended target in the body.

Which genes are included in the SLC gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the SLC family (http://www.genenames.org/genefamily/slc.php).

Genetics Home Reference summarizes the normal function and health implications of these members of the SLC gene family: SLC1A3, SLC2A1, SLC2A10, SLC3A1, SLC4A1, SLC5A1, SLC5A5, SLC6A8, SLC7A7, SLC7A9, SLC9A6, SLC12A1, SLC12A3, SLC12A6, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC20A2, SLC22A5, SLC25A1, SLC25A4, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC26A2, SLC26A4, SLC29A3, SLC30A10, SLC34A2, SLC37A4, SLC40A1, SLC45A2, SLC46A1, SLC52A3, SLCO1B1, and SLCO1B3.

What conditions are related to genes in the SLC gene family?

Genetics Home Reference includes these conditions related to genes in the SLC gene family:

  • 2-hydroxyglutaric aciduria
  • achondrogenesis
  • African iron overload
  • Allan-Herndon-Dudley syndrome
  • Amish lethal microcephaly
  • Andermann syndrome
  • arterial tortuosity syndrome
  • atelosteogenesis type 2
  • Bartter syndrome
  • biotin-thiamine-responsive basal ganglia disease
  • Brown-Vialetto-Van Laere syndrome
  • carnitine-acylcarnitine translocase deficiency
  • Christianson syndrome
  • citrullinemia
  • congenital hypothyroidism
  • cystinuria
  • diastrophic dysplasia
  • episodic ataxia
  • familial idiopathic basal ganglia calcification
  • Gitelman syndrome
  • glucose-galactose malabsorption
  • GLUT1 deficiency syndrome
  • glycogen storage disease type I
  • hemochromatosis
  • hereditary folate malabsorption
  • hereditary spherocytosis
  • histiocytosis-lymphadenopathy plus syndrome
  • hypermanganesemia with dystonia, polycythemia, and cirrhosis
  • lysinuric protein intolerance
  • multiple epiphyseal dysplasia
  • nonsyndromic deafness
  • oculocutaneous albinism
  • ornithine translocase deficiency
  • Pendred syndrome
  • primary carnitine deficiency
  • progressive external ophthalmoplegia
  • pulmonary alveolar microlithiasis
  • Rotor syndrome
  • sialic acid storage disease
  • SLC4A1-associated distal renal tubular acidosis
  • thiamine-responsive megaloblastic anemia syndrome
  • X-linked creatine deficiency

Where can I find additional information about the SLC gene family?

You may find the following resources about the SLC gene family helpful.

  • University of Bern (Switzerland): SLC Table (http://www.bioparadigms.org/slc/intro.htm)

What glossary definitions help with understanding the SLC gene family?

adenine ; amino acid ; anion ; carnitine ; carrier ; cation ; cell ; chloride ; folate ; gene ; gene symbol ; glucose ; hormone ; iron ; molecule ; nucleoside ; nucleotide ; organelle ; phosphate ; potassium ; protein ; proton ; sodium ; solute ; thiamine ; thyroid ; toxic

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

References

These sources were used to develop the Genetics Home Reference summary for the SLC gene family.

  • Hediger MA, Romero MF, Peng JB, Rolfs A, Takanaga H, Bruford EA. The ABCs of solute carriers: physiological, pathological and therapeutic implications of human membrane transport proteinsIntroduction. Pflugers Arch. 2004 Feb;447(5):465-8. Epub 2003 Nov 18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14624363?dopt=Abstract)
  • Urban TJ, Sebro R, Hurowitz EH, Leabman MK, Badagnani I, Lagpacan LL, Risch N, Giacomini KM. Functional genomics of membrane transporters in human populations. Genome Res. 2006 Feb;16(2):223-30. Epub 2005 Dec 14. (http://www.ncbi.nlm.nih.gov/pubmed/16354753?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: October 2012
Published: December 22, 2014