SLC6A2 Chromosome 16
Solute carrier family 6 member 2
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What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 6
Locus Type
gene with protein product
Location
16q12.2
Ensembl
ENSG00000103546
Associated Conditions (1)
Neurocirculatory asthenia
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201793493 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121918126 | Health Risk | Pathogenic | Neurocirculatory asthenia, Neurocirculatory asthenia |