|Other Names||Solute carrier family 22 member 5, High-affinity sodium-dependent carnitine cotransporter, Organic cation/carnitine transporter 2, SLC22A5, OCTN2|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.|
|Cellular Location||Membrane; Multi-pass membrane protein|
|Tissue Location||Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells|
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Polyspecific organic cation transporters in the liver,kidney, intestine, and other organs are critical for elimination ofmany endogenous small organic cations as well as a wide array ofdrugs and environmental toxins. The encoded protein is a plasmaintegral membrane protein which functions both as an organic cationtransporter and as a sodium-dependent high affinity carnitinetransporter. The encoded protein is involved in the active cellularuptake of carnitine. Mutations in this gene are the cause ofsystemic primary carnitine deficiency (CDSP), an autosomalrecessive disorder manifested early in life by hypoketotichypoglycemia and acute metabolic decompensation, and later in lifeby skeletal myopathy or cardiomyopathy.
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Fransen, K., et al. Hum. Mol. Genet. 19(17):3482-3488(2010)D'Argenio, G., et al. J. Biol. Chem. 285(35):27078-27087(2010)Li, F.Y., et al. Hum. Mutat. 31 (8), E1632-E1651 (2010) :Ridruechai, C., et al. Genes Immun. 11(5):416-422(2010)
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