Characterization of SNPs in the dopamine-β-hydroxylase gene providing new insights into its structure-function relationship

@article{Punchaichira2017CharacterizationOS,
  title={Characterization of SNPs in the dopamine-$\beta$-hydroxylase gene providing new insights into its structure-function relationship},
  author={Toyanji Joseph Punchaichira and Sanjay Kumar Dey and Anirban Mukhopadhyay and Suman Kundu and B. K. Thelma},
  journal={neurogenetics},
  year={2017},
  volume={18},
  pages={155-168}
}
Dopamine-β-hydroxylase (DBH, EC 1.14.17.1), an oxido-reductase that catalyses the conversion of dopamine to norepinephrine, is largely expressed in sympathetic neurons and adrenal medulla. [] Key Method The DBH ORF with wild type (WT) and site-directed mutagenized variants were transfected into HEK293 cells to generate transient and stable lines expressing these variant enzymes.

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TLDR
It is concluded that three common SNPs in the DBH promoter act additively to control phenotypic variation in DBH levels, and that two additional novel loci may also contribute to the expression of this catecholamine biosynthetic trait.

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TLDR
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TLDR
The two proteins had similar kinetic constants, but had different homospecific activities (activities per enzyme protein); the homosPEcific activity of human DBH/S was low, approximately one thirteenth that of humanDBH/A.
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