Aliases for SLC22A5 Gene
External Ids for SLC22A5 Gene
Previous HGNC Symbols for SLC22A5 Gene
Previous GeneCards Identifiers for SLC22A5 Gene
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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
GeneCards Summary for SLC22A5 Gene
SLC22A5 (Solute Carrier Family 22 Member 5) is a Protein Coding gene. Diseases associated with SLC22A5 include carnitine deficiency, systemic primary and mitochondrial complex i deficiency due to acad9 deficiency. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Phospholipase D signaling pathway. GO annotations related to this gene include PDZ domain binding and symporter activity. An important paralog of this gene is SLC22A12.
UniProtKB/Swiss-Prot for SLC22A5 Gene
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.