NET Antibody – Rabbit Polyclonal

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.[provided by RefSeq, Feb 2010]

SLC6A2: Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals. Defects in SLC6A2 are a cause of orthostatic intolerance (OI). OI is a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily.

Protein type: Transporter, SLC family; Transporter; Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 16q12.2

Cellular Component: neuron projection; cell surface; membrane; integral to plasma membrane; plasma membrane; lipid raft

Molecular Function: protein binding; beta-tubulin binding; monoamine transmembrane transporter activity; alpha-tubulin binding; norephinephrine:sodium symporter activity

Biological Process: response to drug; synaptic transmission; norepinephrine transport; transport; neurotransmitter transport; monoamine transport; response to pain; transmembrane transport

Disease: Orthostatic Intolerance