Immunogen sequence: LAGTPEHRCR VPDAANLSSA WRNNSVPLRL RDGREVPHSC SRYRLATIAN FSALGLEPGR DVDLGQLEQE SCLDGWEFSQ DVYLSTVVTE WNLVCEDNWK; Positive Samples: SW480, HL-60, NCI-H460, LO2, HeLa, Mouse kidney, Mouse liver, Rat liver; Cellular Location: Membrane, Multi-pass membrane protein
Carnitine (b-hydroxy-g-trimethylaminobutyrate) is a small, highly polar compound that aids in the b-oxidation of long-chain fatty acids. Organic cation/carnitine transporters (OCTN) assist in the elimination of cationic compounds, including xenobiotics, and transport carnitine for reabsorption in the kidney. Similar to organic cation transporters (OCT), OCTN proteins localize to the plasma membrane of epithelial cells. OCTN1 is expressed in kidney, trachea, bone marrow and fetal liver. OCTN2 is abundantly expressed in kidney, skeletal muscle, placenta and heart. OCTN3 is strongly expressed in testis and weakly expressed in kidney. The gene encoding human OCTN1 maps to chromosome 5 and the gene encoding human OCTN2 maps to chromosome 5q31. Mutations in the gene encoding OCTN2 leads to systemic carnitine deficiency (SCD), an autosomal recessive disorder characterized by cardiomyopathy, skeletal myopathy, lethargy, hypoglycemia and hyperammonemia.
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Protein Aliases: Ergothioneine transporter; ET transporter; integral membrane transport protein; LSTP-Like 2; organic cation transporter 1; organic cation transporter OCTN1; Organic cation/carnitine transporter 1; solute carrier family (organic cation transporter), member 4; solute carrier family 22 (organic cation transporter), member 4; solute carrier family 22 (organic cation/ergothioneine transporter), member 4; solute carrier family 22 (organic cation/zwitterion transporter), member 4; Solute carrier family 22 member 4
Gene Aliases: ETT; OCTN1; SLC22A4; UT2H