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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

SLC22A4

The information on this page was automatically extracted from online scientific databases.

What is the official name of the SLC22A4 gene?

The official name of this gene is “solute carrier family 22 (organic cation/zwitterion transporter), member 4.”

SLC22A4 is the gene's official symbol. The SLC22A4 gene is also known by other names, listed below.

What is the normal function of the SLC22A4 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6583):

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]

From UniProt (S22A4_HUMAN) (http://www.uniprot.org/uniprot/Q9H015):

Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be ergothioneine (ET).

NOTE: UniProt (S22A4_HUMAN) (http://www.uniprot.org/uniprot/Q9H015) suggests using caution when interpreting this information.

How are changes in the SLC22A4 gene related to health conditions?

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6583) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the SLC22A4 gene.
  • Rheumatoid arthritis
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the SLC22A4 gene and its association with health conditions.
OMIM
Number
Title

Where is the SLC22A4 gene located?

Cytogenetic Location: 5q31.1

Molecular Location on chromosome 5: base pairs 132,294,384 to 132,344,206

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/6583))

The SLC22A4 gene is located on the long (q) arm of chromosome 5 at position 31.1.

The SLC22A4 gene is located on the long (q) arm of chromosome 5 at position 31.1.

More precisely, the SLC22A4 gene is located from base pair 132,294,384 to base pair 132,344,206 on chromosome 5.

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 SLC22A4?

You and your healthcare professional may find the following resources about SLC22A4 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 SLC22A4 gene or gene products?

  • OCTN1

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 SLC22A4?

arthritis ; ATP ; atrophy ; autoimmune ; carnitine ; cation ; collagen ; gene ; intestine ; kidney ; molecule ; motif ; nucleotide ; Phe ; plasma ; protein ; sodium ; susceptibility ; transmembrane

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: February 8, 2016