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Defective SLC6A2 causes orthostatic intolerance (OI)

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5619109

PubChem

R-HSA-5619109

Description

SLC6A2 encodes the sodium-dependent noradrenaline transporter NAT1 which terminates the action of the neurotransmitter noradrenaline by transporting it from the synapse back to its vesicles for storage and reuse (Broer & Gether 2012, Schweikhard & Ziegler 2012). SLC6A2 is expressed in the CNS and adrenal glands. Defects in SLC6A2 can cause orthostatic intolerance (OI; MIM:604715), a syndrome characterised by lightheadedness, fatigue and development of symptoms during upright standing, relieved by sitting back down again. Plasma norepinephrine concentration is abnormally high (Lambert & Lambert 2014).

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SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying 1 entry
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
P23975	Sodium-dependent noradrenaline transporter	NAT1 NET1 SLC6A2 SLC6A5	view

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