8y2c

Structural highlights

Disease

SC6A3_HUMAN Infantile dystonia-parkinsonism. The disease is caused by variants affecting the gene represented in this entry.

Function

SC6A3_HUMAN Mediates sodium- and chloride-dependent transport of dopamine (PubMed:10375632, PubMed:11093780, PubMed:1406597, PubMed:15505207, PubMed:19478460, PubMed:8302271). Also mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline) (By similarity). Regulator of light-dependent retinal hyaloid vessel regression, downstream of OPN5 signaling (By similarity).[UniProtKB:P23977][UniProtKB:Q61327]^{[1] [2] [3]}

References

1. ↑ Giros B, el Mestikawy S, Godinot N, Zheng K, Han H, Yang-Feng T, Caron MG. Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter. Mol Pharmacol. 1992 Sep;42(3):383-90 PMID:1406597
2. ↑ Torres GE, Sweeney AL, Beaulieu JM, Shashidharan P, Caron MG. Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated DeltaE-torsinA mutant. Proc Natl Acad Sci U S A. 2004 Nov 2;101(44):15650-5. Epub 2004 Oct 25. PMID:15505207 doi:http://dx.doi.org/10.1073/pnas.0308088101
3. ↑ Pristupa ZB, Wilson JM, Hoffman BJ, Kish SJ, Niznik HB. Pharmacological heterogeneity of the cloned and native human dopamine transporter: disassociation of [3H]WIN 35,428 and [3H]GBR 12,935 binding. Mol Pharmacol. 1994 Jan;45(1):125-35 PMID:8302271