GeneID: 210
Names
| Common Name: | SLC22A4 | Type: | Gene |
|---|---|---|---|
| Chromosome: | 5 (NC_000005.10) | Locus: | NG_012129.1 (SLC22A4) |
| HUGO Symbol: | SLC22A4 | Full Name: | solute carrier family 22 member 4 |
| Exons: | 10 | Introns: | 9 |
Description:
The SLC22A4 gene encodes an organic cation/zwitterion transport protein (OCTN1), which belongs to the SLC22 superfamily of solute carrier (SLC) transporters. The SLC22 family members share a similar membrane topology of 12 α-helical transmembrane domains and are polyspecific, that is, they can accept a variety of structurally diverse substrates. Transport is usually mediated via translocation of the substrates against a concentration gradient or via a secondary active transport mechanism that involves the use of an electrochemical gradient created by ion fluxes across the membrane. OCTN1 is expressed in a variety of tissues, including the liver, kidney, intestine and heart. It is also expressed in erythrocytes with a regulatory role in the transport and intracellular accumulation of hydroxyurea (HU). It participates in HU-mediated γ-globin synthesis with a potential role in the pharmacologic induction of HbF. The antioxidant ergotheionine is considered to be its most relevant physiological susbtrate. OCTN1 may also contribute to drug excretion in the kidneys. Defects in this gene have been linked to the development of autoimmune or inflammatory diseases, such as Crohn's disease or rheumatoid arthritis.
Synonyms: OCTN1 , DFNB60
Comments:
N/A
Number of entries/variants: 0
Publications / Origin
- Koepsell H, The SLC22 family with transporters of organic cations, anions and zwitterions., Mol. Aspects Med. , 34(2), 413-35, 2013
- Walker AL, Ofori-Acquah SF, Sustained enhancement of OCTN1 transporter expression in association with hydroxyurea induced γ-globin expression in erythroid progenitors., Exp. Hematol. , 45(0), 69-73.e2, 2017