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

doi:10.1007/s10048-017-0519-3

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Article

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

Neurogenetics - 1 Jul 2017

Punchaichira Toyanji Joseph, Dey Sanjay Kumar, Mukhopadhyay Anirban, Kundu Suman, Thelma B K

Abstract excerpt

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. Several regulatory and structural variants in DBH associated with various neuropsychiatric, cardiovascular diseases and a few that may determine enzyme activity have also been identified. Due to paucity of studies on functional...

Topics

Dopamine
Dopamine beta-Hydroxylase
Genetic Association Studies
HEK293 Cells
Humans
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
Structure-Activity Relationship

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PMID: 28707163
DOI: 10.1007/s10048-017-0519-3

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