SLC22A5 Antibody – Rabbit Polyclonal

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

Chromosomal Location of Human Ortholog: 5q23.3

Cellular Component: brush border membrane; basolateral plasma 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