SLC22A5 Antibody – Rabbit Polyclonal

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq, Jul 2008]

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.

Protein type: Membrane protein, multi-pass; Membrane protein, integral; Transporter, SLC family; Transporter

Chromosomal Location of Human Ortholog: 5q23.3

Cellular Component: basolateral plasma membrane; brush border membrane; apical plasma membrane; plasma membrane; integral to membrane

Molecular Function: protein binding; antibiotic transporter activity; symporter activity; carnitine transporter activity; drug transporter activity; quaternary ammonium group transmembrane transporter activity; ATP binding; PDZ domain binding

Biological Process: quaternary ammonium group transport; drug transport; antibiotic transport; sodium ion transport; multidrug transport; transmembrane transport; carnitine transport; quorum sensing during interaction with host

Disease: Carnitine Deficiency, Systemic Primary