背景
This gene encodes a member of the sodium:neurotransmitter symporter family.This
member is a multi-pass membrane protein, which is responsible for reuptake of
norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine
homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized
by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript
variants encoding different isoforms have been identified in this gene.
