SLC6A2

Function

Mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline) (PubMed:2008212, PubMed:8125921). Can also mediate sodium- and chloride-dependent transport of dopamine (PubMed:11093780, PubMed:8125921).

Involvement in disease

Orthostatic intolerance

OI

An autosomal dominant disorder characterized by lightheadedness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. Plasma norepinephrine concentration is abnormally high.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A2 subfamily.

Cellular localization

• Cell membrane
• Multi-pass membrane protein

Alternative names

NAT1, NET1, SLC6A5, SLC6A2, Sodium-dependent noradrenaline transporter, Norepinephrine transporter, Solute carrier family 6 member 2, NET

Database links

swissprot:P23975 entrezGene:6530 omim:163970

Other research areas

• Cardiovascular