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Organic Cation/Carnitine Transporter (OCTN2)

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SLC22A5; CDSP; SCD; Solute Carrier Family 22 Member 5; High-affinity sodium-dependent carnitine cotransporter

Organic Cation/Carnitine Transporter (OCTN2)
CCC E445
HGNC 10969
MGI 1329012
PubMed 16931768
RGD 3702
UniProt O76082
Wiki SLC22A5
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. SLC22A5 is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Organic Cation/Carnitine Transporter (OCTN2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Organic Cation/Carnitine Transporter (OCTN2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Organic Cation/Carnitine Transporter (OCTN2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Organic Cation/Carnitine Transporter (OCTN2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Organic Cation/Carnitine Transporter (OCTN2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPE445Mu01 Recombinant Organic Cation/Carnitine Transporter (OCTN2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Organic Cation/Carnitine Transporter (OCTN2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Organic Cation/Carnitine Transporter (OCTN2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Organic Cation/Carnitine Transporter (OCTN2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Organic Cation/Carnitine Transporter (OCTN2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Organic Cation/Carnitine Transporter (OCTN2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Organic Cation/Carnitine Transporter (OCTN2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Organic Cation/Carnitine Transporter (OCTN2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Organic Cation/Carnitine Transporter (OCTN2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Organic Cation/Carnitine Transporter (OCTN2) ELISA Kit Customized Service Offer
  1. "cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family."Biochem. Biophys. Res. Commun. 246:589-595(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2."J. Biol. Chem. 273:20378-20382(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter."Nat. Genet. 21:91-94(1999) [PubMed] [Europe PMC] [Abstract]
  4. "OCTN2VT, a splice variant of OCTN2, does not transport carnitine because of the retention in the endoplasmic reticulum caused by insertion of 24 amino acids in the first extracellular loop of OCTN2."Biochim. Biophys. Acta 1773:1000-1006(2007) [PubMed] [Europe PMC] [Abstract]
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The DNA sequence and comparative analysis of human chromosome 5." Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter."J. Pharmacol. Exp. Ther. 290:1482-1492(1999) [PubMed] [Europe PMC] [Abstract]
  9. "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality."Biochem. Biophys. Res. Commun. 261:484-487(1999) [PubMed] [Europe PMC] [Abstract]
  12. "Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency."Hum. Genet. 105:157-161(1999) [PubMed] [Europe PMC] [Abstract]
  13. "Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency."Hum. Mol. Genet. 8:655-660(1999) [PubMed] [Europe PMC] [Abstract]
  14. "Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency."Hum. Mol. Genet. 8:2247-2254(1999) [PubMed] [Europe PMC] [Abstract]
  15. "Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function."J. Biol. Chem. 274:33388-33392(1999) [PubMed] [Europe PMC] [Abstract]
  16. "Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency."Hum. Mutat. 15:118-118(2000) [PubMed] [Europe PMC] [Abstract]
  17. "A missense mutation in the OCTN2 gene associated with residual carnitine transport activity."Hum. Mutat. 15:238-245(2000) [PubMed] [Europe PMC] [Abstract]
  18. "Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation."Hum. Mutat. 16:401-407(2000) [PubMed] [Europe PMC] [Abstract]
  19. "Phenotype and genotype variation in primary carnitine deficiency."Genet. Med. 3:387-392(2001) [PubMed] [Europe PMC] [Abstract]
  20. "Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy."J. Inherit. Metab. Dis. 27:778-780(2004) [PubMed] [Europe PMC] [Abstract]
  21. "Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene."Hum. Mutat. 25:306-313(2005) [PubMed] [Europe PMC] [Abstract]
  22. "Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5)."Mol. Pharmacol. 70:1602-1611(2006) [PubMed] [Europe PMC] [Abstract]
  23. "Expanded newborn screening identifies maternal primary carnitine deficiency."Mol. Genet. Metab. 90:441-445(2007) [PubMed] [Europe PMC] [Abstract]
  24. "Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects."Genet. Med. 12:19-24(2010) [PubMed] [Europe PMC] [Abstract]
  25. "Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency."Hum. Mutat. 31:E1632-E1651(2010) [PubMed] [Europe PMC] [Abstract]
  26. "Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening."Mol. Genet. Metab. 100:46-50(2010) [PubMed] [Europe PMC] [Abstract]
  27. "Genotype-phenotype correlation in primary carnitine deficiency."Hum. Mutat. 33:118-123(2012) [PubMed] [Europe PMC] [Abstract]