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Article

Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency.

Biochimica et biophysica acta - 1 Mar 2011

Filippo Cristina Amat di San, Ardon Orly, Longo Nicola

Abstract excerpt

Primary carnitine deficiency is caused by impaired activity of the Na(+)-dependent OCTN2 carnitine/organic cation transporter. Carnitine is essential for entry of long-chain fatty acids into mitochondria and its deficiency impairs fatty acid oxidation. Most missense mutations identified in patients with primary carnitine deficiency affect putative transmembrane or intracellular domains of the transporter....

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Identifiers

PMID: 21126579
DOI: 10.1016/j.bbadis.2010.11.007
PMCID: PMC3026072

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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