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  • Mutation Databases
    • ALPORT (COL4A5)
      • ALPORT Database
      • ALPORT Links
      • ALPORT Submissions
    • Biotinidase Deficiency (BTD)
      • BTD Database
      • BTD Links
      • BTD Submissions
    • Galactosemia (GALT)
      • GALT Database
      • GALT Links
      • GALT Submissions
    • HHT (ACVRL1 and ENG)
      • ACVRL1 Database
      • ENG Database
    • Juvenile Polyposis Syndrome (SMAD4)
      • SMAD4 Database
      • SMAD4 Links
      • SMAD4 Submissions
    • Legius Syndrome (SPRED1)
      • SPRED1 Database
      • SPRED1 Links
      • SPRED1 Submissions
    • MEN1 (Menin)
      • MEN1 Database
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    • MEN2 (RET)
      • MEN2 Database
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      • MEN2 Submissions
    • Primary Carnitine Deficiency (SLC22A5)
      • SLC22A5 Database
      • SLC22A5 Links
      • SLC22A5 Submissions
    • Pulmonary Arterial Hypertension (BMPR2)
      • BMPR2 Database
      • BMPR2 Links
      • BMPR2 Submissions
    • RASA1-Related Disorders
      • RASA1 Database
      • RASA1 Links
      • RASA1 Submissions

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.

Please contact us to suggest additional content for this page.

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.
    • SLC22A5 Home
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  • About ARUP Laboratories

    ARUP Laboratories is a national reference laboratory that supports the testing needs of hospitals and laboratories throughout the U.S. ARUP also serves as a training site for pathology residency and fellowship programs.

    Visiting ARUP Laboratories
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  • Contact Information
    • SLC22A5 Mutations
      Rong Mao, MD
      Medical Director
      Molecular Genetics
      (801) 583-2787, x3165
      rong.mao@aruplab.com
    • SLC22A5 Submissions
      Fernanda Calderon, MS
      Database Curator
      (360) 314-6738
      fernanda.calderon@aruplab.com
    • SLC22A5 Testing
      ARUP Client Services
      ARUP Laboratories
      (800) 522-2787
      clientservices@aruplab.com
    • Website
      David Crockett, PhD
      Director, Bioinformatics
      (801) 583-2787, x2388
      david.crockett@utah.edu
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