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The OCTN2 carnitine transporter and fatty acid oxidation

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Membrane Transporter Diseases

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Abstract

Carnitine (3-hydroxy -4-trimethylammonium butyrate) is a hydrophilic molecule that plays an essential role in the transfer of long-chain fatty acids into mitochondria for β-oxidation (Scaglia and Longo 1999). Carnitine also binds acyl residues and helps in their elimination. This decreases the number of acyl residues conjugated with Coenzyme A (CoA) and increases the ratio between free and acylated CoA (Bieber 1988). Less defined functions of carnitine include the shuttling of fatty acids between different intracellular organelle s (peroxisomes, microsomes, and mitochondria) involved in fatty acid metabolism (Bieber 1988). Carnitine deficiency has been known for several years in humans, but the difference between primary and secondary carnitine deficiency has only been fully defined in recent years. This chapter will review the structure and function of the OCTN2 carnitine transporter defective in primary carnitine deficiency.

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Authors and Affiliations

  1. Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 North Medical Drive, Salt Lake City, UT 84132, USA

    Nicola Longo & Cristina Amat Di San Filippo

  2. Department of Pathology, University of Utah, 500 Chipeta Way, Salt Lake City, UT 84108, USA

    Marzia Pasquali

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  1. Nicola Longo
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  2. Cristina Amat Di San Filippo
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  3. Marzia Pasquali
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Editors and Affiliations

  1. Australian National University, Canberra, Australia

    Stefan Bröer

  2. University of Zurich, Zurich, Switzerland

    Carsten A. Wagner

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Longo, N., Di San Filippo, C.A., Pasquali, M. (2003). The OCTN2 carnitine transporter and fatty acid oxidation. In: Bröer, S., Wagner, C.A. (eds) Membrane Transporter Diseases. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-9023-5_11

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  • DOI: https://doi.org/10.1007/978-1-4419-9023-5_11

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