Familial Orthostatic Tachycardia due to Norepinephrine Transporter (SLC6A2) Deficiency

  • Maureen K. Hahn
  • Michelle Mazei
  • Nancy Flattem
  • John R. Shannon
  • Randy D. Blakely
  • David Robertson
Part of the Advances in Behavioral Biology book series (ABBI, volume 53)


The availability of extracellular NE is limited by a presynaptically localized NE transporter, NET. NET retrieves released NE, thus limiting the spread and duration of synaptic excitability and allowing neurotransmitter to be repackaged into synaptic vesicles. NET is a target for both antidepressants, such as the tricyclic agents and for the psychostimulants, amphetamine and cocaine.2 NET is a member of a gene family of 12 transmembrane domain (TMD)-containing, Na+- and Cl--coupled cotransporters which also includes dopamine, serotonin, GABA, glycine, proline and taurine transporters. hNET is a single copy gene localized to chromosome 16 at 16ql2.2 (SLC6A2).5, 10 The hNET gene was cloned from a human lung fibroblast library and the intron-exon borders were determined, reporting a gene of ~45 kb with 16 exons and 15 introns.17,23,27 The hNET gene codes for a 617 amino acid protein with a predicted molecular weight of 69, 000 Da.26


Orthostatic Intolerance Norepinephrine Transporter Taurine Transporter Bioi Psychiatry Hyperadrenergic State 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media New York 2002

Authors and Affiliations

  • Maureen K. Hahn
    • 1
  • Michelle Mazei
    • 2
  • Nancy Flattem
    • 2
  • John R. Shannon
    • 3
  • Randy D. Blakely
    • 1
  • David Robertson
    • 3
  1. 1.Center for Molecular Neuroscience, Department of PharmacologyVanderbilt UniversityNashvilleUSA
  2. 2.Department of PharmacologyVanderbilt UniversityNashvilleUSA
  3. 3.Autonomic Dysfunction CenterVanderbilt UniversityNashvilleUSA

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