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SLC22A5 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. Defects in SLC22A5 are the cause of systemic primary carnitine deficiency (CDSP). CDSP is an autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, SLC family
Chromosomal Location of Human Ortholog: 5q31.1
Cellular Component: apical plasma membrane; brush border membrane; integral component of plasma membrane; plasma membrane
Molecular Function: ATP binding; carnitine transmembrane transporter activity; cation:cation antiporter activity; drug transmembrane transporter activity; organic anion transmembrane transporter activity; PDZ domain binding; protein binding; quaternary ammonium group transmembrane transporter activity; symporter activity
Biological Process: carnitine metabolic process; carnitine transport; drug transmembrane transport; drug transport; organic anion transport; quaternary ammonium group transport; quorum sensing involved in interaction with host; sodium ion transport
Disease: Carnitine Deficiency, Systemic Primary
Reference #:  O76082 (UniProtKB)
Alt. Names/Synonyms: CDSP; FLJ46769; high-affinity sodium dependent carnitine cotransporter; High-affinity sodium-dependent carnitine cotransporter; OCTN2; OCTN2VT; organic cation transporter 2; organic cation transporter 5; Organic cation/carnitine transporter 2; S22A5; SLC22A5; solute carrier family 22 (organic cation transporter), member 5; solute carrier family 22 (organic cation/carnitine transporter), member 5; Solute carrier family 22 member 5
Gene Symbols: SLC22A5
Molecular weight: 62,752 Da
Basal Isoelectric point: 8.07  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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