SLC22A4
SLC22A4 is a gene that in humans encodes the organic cation transporter protein, OCTN1. This protein is a member of the solute carrier family 22, which includes organic cation and anion transporters. OCTN1 is involved in the transport of various organic cations, and is significantly expressed in the kidney and liver.
Function
The SLC22A4 gene is responsible for encoding a protein that functions as an organic cation transporter, which can transport a wide variety of cations across cell membranes. The exact substrates of this transporter are not known, but it is thought to transport small organic cations and carnitine.
Clinical Significance
Variations in the SLC22A4 gene have been associated with susceptibility to rheumatoid arthritis and Crohn's disease. In particular, a single nucleotide polymorphism (SNP) in the SLC22A4 gene, known as the -207G>C SNP, has been linked to these diseases.
See Also
References
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