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.
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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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