Solute Carrier Family 22 Member 5

A high-affinity, ATP-binding, co-transporter for CARNITINE that is highly expressed in kidney, skeletal muscle, heart, and placental tissues. It transports one sodium ion with one carnitine molecule. It has a lower affinity for other organic cations and transports them independently of sodium. Mutations in the SLC22A5 gene are associated with systemic carnitine deficiency.

Also Known As:

High-Affinity Carnitine Transporter; OCTN2 Protein; Organic Cation-Carnitine Transporter 2; SLC22A5 Protein; Sodium-Dependent Carnitine Cotransporter; Carnitine Cotransporter, Sodium-Dependent; Carnitine Transporter, High-Affinity; High Affinity Carnitine Transporter; Organic Cation Carnitine Transporter 2; Sodium Dependent Carnitine Cotransporter; Transporter, High-Affinity Carnitine

Networked: 12 relevant articles (0 outcomes, 1 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Alaedin, M: 1 article (10/2021)
2.	Dänicke, S: 1 article (10/2021)
3.	Frahm, J: 1 article (10/2021)
4.	Ghaffari, M H: 1 article (10/2021)
5.	Grindler, S: 1 article (10/2021)
6.	Huber, K: 1 article (10/2021)
7.	Kersten, S: 1 article (10/2021)
8.	Meyer, J: 1 article (10/2021)
9.	Muráni, E: 1 article (10/2021)
10.	Rehage, J: 1 article (10/2021)

Related Diseases

1.	Azoospermia 04/01/2006 - "The aim of present study is to investigate the expression of OCTN2 protein in the mouse epididymis and its relation between the localization of OCTN2 and obstructive azoospermia in JVS mice as animal models for human male infertility. "
2.	Male Infertility (Male Sterility) 04/01/2006 - "The aim of present study is to investigate the expression of OCTN2 protein in the mouse epididymis and its relation between the localization of OCTN2 and obstructive azoospermia in JVS mice as animal models for human male infertility. "
3.	Cardiomyopathies (Cardiomyopathy) 06/01/2008 - "A defect in the high-affinity carnitine transporter OCTN2 causes autosomal recessive primary carnitine deficiency that can present with hypoketotic hypoglycemia, mainly in infancy or cardiomyopathy. " 11/01/2023 - "Carnitine levels were measured as part of her diagnostic workup, discovering a rare, reversible cause of short QT syndrome (SQTS) and associated cardiomyopathy-primary carnitine deficiency (PCD) caused by a homozygous mutation in the SLC22A5 gene, leading to an in-frame deletion mutation (NP_003051.1:p.Phe23del) affecting the organic cation transporter 2 (OCTN2) protein. " 11/02/1999 - "Individuals with the plasmalemmal high-affinity carnitine transporter defect present with progressive infantile-onset carnitine-responsive cardiomyopathy, lipid storage myopathy, recurrent hypoglycemic hypoketotic encephalopathy, and failure to thrive. "
4.	Neoplasms (Cancer) 01/01/2013 - "Different involvement of promoter methylation in the expression of organic cation/carnitine transporter 2 (OCTN2) in cancer cell lines." 10/01/2023 - "Organic cation/carnitine transporter 2 (OCTN2), a sodium-ion dependent carnitine transporter and a sodium-ion independent tetraethylammonium (TEA) transporter, has been reported to contribute tumor malignancies and metabolic dysregulation in renal and esophageal carcinoma. "
5.	Fatty Liver 01/01/2003 - "The juvenile visceral steatosis (jvs) mouse serves as an excellent clinical, biochemical and molecular model for the high-affinity carnitine transporter OCTN2 defect and is due to a spontaneous point mutation in the murine Octn2 gene on mouse chromosome 11, which is syntenic to the human locus at 5q31 that harbours the human OCTN2 gene." 11/27/1998 - "A missense mutation of mouse OCTN2, a sodium-dependent carnitine cotransporter, in the juvenile visceral steatosis mouse."

Related Drugs and Biologics

1.	Carnitine (L-Carnitine)
2.	Systemic carnitine deficiency
3.	Tetraethylammonium (Tetraethylammonium Bromide)
4.	Vitamin B 12 (Cyanocobalamin)
5.	Tea
6.	Sodium
7.	Messenger RNA (mRNA)
8.	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)
9.	Hypoglycemic Agents (Hypoglycemics)
10.	Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)