Gene Symbol | SLC6A2 |
Entrez Gene ID | 6530 |
Full Name | solute carrier family 6 member 2 |
Synonyms | NAT1,NET,NET1,SLC6A5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Feb 2010]. |
Disorder MIM: | |
Disorder Html: | Orthostatic intolerance, 604715 (3) |