SLC22A5 References

The web links shown below are existing online resources for CUD and the SLC22A5 gene. Links to several review journal articles are given, as well as genome and protein links.

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Disease Information Links

• Genetics Home Reference
• eMedicine
• OMIM

Gene and Protein Links

• OCTN2 cDNA: NC_000005.8
• OCTN2 mRNA: NM_003060.2
• OCTN2 protein: HPRD and Uniprot
• Layout of cDNA nucleotide and amino acid sequence
• Graphical view of OCTN2 transmembrane domains and expressed mutations detected in patient samples

Testing

• Gene Tests
• ARUP Full-Gene Test Code: 0051682

Peer-Reviewed Literature

• Nezu et al. 1999. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat. Gen. 21(1):91-4.
• Amat di San Filippo et al. 2003. Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter. Biol Chem. 279(8):7247-53.
• Longo et al. 2006. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 142(2):77-85.
• Amat di San Fillippo et al. 2006. Pharmacological rescue of carnitine transport in primary carnitine deficiency. Hum Mutat. 27(6):513-23.
• Schimmenti et al. 2007. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab 90(4):441-5.
• Amat di San Fillippo et al. 2008. Cardiomyopathy and carnitine deficiency. Mol Genet Metab.