8y92

Structural highlights

Disease

SC6A2_HUMAN Postural orthostatic tachycardia syndrome due to NET deficiency. The disease is caused by variants affecting the gene represented in this entry.

Function

SC6A2_HUMAN 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).^{[1] [2] [3]}

References

1. ↑ Syringas M, Janin F, Mezghanni S, Giros B, Costentin J, Bonnet JJ. Structural domains of chimeric dopamine-noradrenaline human transporters involved Mol Pharmacol. 2000 Dec;58(6):1404-11. PMID:11093780 doi:10.1124/mol.58.6.1404
2. ↑ Pacholczyk T, Blakely RD, Amara SG. Expression cloning of a cocaine transporter. Nature. 1991 Mar 28;350(6316):350-4. PMID:2008212 doi:10.1038/350350a0
3. ↑ Gu H, Wall SC, Rudnick G. Stable expression of biogenic amine transporters reveals differences in inhibitor sensitivity, kinetics, and ion dependence. J Biol Chem. 1994 Mar 11;269(10):7124-30 PMID:8125921