What is it about?

Genetic variants in Dopamine-β-hydroxylase that changes protein sequence were found to affect protein secretion. This effect could be due to misfolding of variant proteins in Endoplasmic Reticulum(ER).

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Why is it important?

Protein variants or proteoforms may have different activity status. Identifying genetic variants may help to design drugs/inhibitors according to the activity of the protein in vivo leading to personalized medicine.


Multidisciplinary research such as these may encourage public interest in personalised medicine.

Dr. Toyanji Joseph Punchaichira
University of Delhi

Read the Original

This page is a summary of: Characterization of SNPs in the dopamine-β-hydroxylase gene providing new insights into its structure-function relationship, Neurogenetics, July 2017, Springer Science + Business Media, DOI: 10.1007/s10048-017-0519-3.
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