Gene: SLC6A2

Alternate names for this Gene: NAT1|NET|NET1|SLC6A5

Gene Summary: 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.

Gene is located in Chromosome: 16

Location in Chromosome : 16q12.2

Description of this Gene: solute carrier family 6 member 2

Type of Gene: protein-coding

rs40434 in SLC6A2 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs121918126 in SLC6A2 gene and Orthostatic intolerance PMID 10684912 2000 Orthostatic intolerance and tachycardia associated with norepinephrine-transporter deficiency.