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, SLC5A1, SLC5A5, SLC6A8, SLC7A7, SLC7A9, SLC9A6, SLC12A1, SLC12A3, SLC12A6, SLC16A2, SLC17A5, SLC19A2, SLC20A2, SLC22A5, SLC25A4, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC26A2, SLC26A4, SLC30A10, 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:

achondrogenesis
African iron overload
Allan-Herndon-Dudley syndrome
Amish lethal microcephaly
Andermann syndrome
arterial tortuosity syndrome
atelosteogenesis type 2
Bartter syndrome
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
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
Rotor syndrome
sialic acid storage disease
thiamine-responsive megaloblastic anemia syndrome
X-linked creatine deficiency

What glossary definitions help with understanding the SLC gene family?

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

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.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.