Pathway
Defective SLC6A2 causes orthostatic intolerance (OI)
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. 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.
REACT:R-HSA-5619109Reactome
What the reference databases state
Statements
1 statement
1 statement · 1 reference database · Subject: Defective SLC6A2 causes orthostatic intolerance (OI) · Sources: Reactome
- SLC6A2 participates in Defective SLC6A2 causes orthostatic intolerance (OI)ProteinReactome R-HSA-5619109Inferred only