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[The human OCTN2 carnitine transporter and its mutations].

Orvosi hetilap - 28 Mar 2004

Melegh Béla

Abstract excerpt

The gene currently known as SLC22A5 was already sequenced in the Human Genome project, and it was annotated as the gene of the high affinity carnitine transporter (OCTN2) in 1998. After the verification of the real function of the OCTN2 several disease related mutations of the gene have been identified, albeit the entity of the primary carnitine deficiency syndrome (OMIM 212140) was separated earlier. Besides the...

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PMID: 15125318

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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