![]() NET functions to transport synaptically released norepinephrine back into the presynaptic neuron. The protein is composed of 617 amino acids. In addition, there is a large extracellular loop located between TMD 3 and 4. The intracellular portion contains an amino (- NHĢ) group and carboxyl (-COOH) group. The norepinephrine transporter is composed of 12 transmembrane domains (TMDs). Simplified structure of the norepinephrine transporter protein. Missense Mutations in the NET Gene Location Thirteen NET missense mutations have been discovered so far. Thus far, however, the only confirmed direct association between a SNP and a clinical condition is that of the SNP, Ala457Pro, and orthostatic intolerance. The SNPs rs3785143 and rs11568324 have been related to attention-deficit hyperactivity disorder. There is evidence suggesting a relationship between NET SNPs and various disorders such as ADHD psychiatric disorders, postural tachycardia and orthostatic intolerance. NET SNPs and possible associations with various diseases are an area of focus for many research projects. NET proteins with an altered amino acid sequence (more specifically, a missense mutation) could potentially be associated with various diseases that involve abnormally high or low plasma levels of norepinephrine due to altered NET function. Single-nucleotide polymorphisms Ī single-nucleotide polymorphism (SNP) is a genetic variation in which a genome sequence is altered by a single nucleotide ( A, T, C or G). The structural organization of NET is highly homologous to other members of a sodium/chloride-dependent family of neurotransmitter transporters, including dopamine, epinephrine, serotonin and GABA transporters. Based on the nucleotide and amino acid sequence, the NET transporter consists of 617 amino acids with 12 membrane-spanning domains. The norepinephrine transporter gene, SLC6A2 is located on human chromosome 16 locus 16q12.2. ![]() There is evidence that single-nucleotide polymorphisms in the NET gene ( SLC6A2) may be an underlying factor in some of these disorders. In addition, an overabundance of NET is associated with ADHD. NETs, along with the other monoamine transporters, are the targets of many antidepressants and recreational drugs. The reuptake of these two neurotransmitters is essential in regulating concentrations in the synaptic cleft. ![]() NET can also reuptake extracellular dopamine (DA). NET is a monoamine transporter and is responsible for the sodium-chloride (Na +/Cl −)-dependent reuptake of extracellular norepinephrine (NE), which is also known as noradrenaline. The norepinephrine transporter ( NET), also known as noradrenaline transporter ( NAT), is a protein that in humans is encoded by the solute carrier family 6 member 2 ( SLC6A2) gene. dopamine uptake involved in synaptic transmission. ![]()
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