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Official Full Name: solute carrier family 22 member 18
Also known as: HET; ITM; BWR1A; IMPT1; TSSC5; ORCTL2; BWSCR1A; SLC22A1L; p45-BWR1A
This gene is one of several tumor suppressor subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and cancers of the lung, ovary, and breast. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms tumors and lung cancers. This protein may act as a transporter of organic cations and play a role in the transport of chloroquine and quinidine-related compounds in the kidney. Several alternatively spliced transcript variants encoding different isoforms have been described.