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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  1. Koepsell H, The SLC22 family with transporters of organic cations, anions and zwitterions., Mol. Aspects Med. , 34(2), 413-35, 2013 PubMed
  2. 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 PubMed
Created on 2017-02-13 17:50:05, Last reviewed on 2018-05-07 17:18:37 (Show full history)


Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.