ALDH2

Introduction

Some kind of intro, where it’s located, coding gene is located on chromosome 12 (12q24.2), 44kpbs in lenght with 13 exons …

Structure

spinqualitylabelsall models Human mitochondrial aldehyde dehydrogenase, apo form (PDB entry 3N80) Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D Homotetramer ...

Function

Detoxifying of toxic aldehydes, involved in many pathways such as ethanol breakdown, lipid metabolization, role in oxidative stress of cell.

Mutations

spinqualitylabelsall models Human Mitochondrial Aldehyde Dehydrogenase Asian Variant, ALDH2*2, complexed with agonist Alda-1 (PDB entry 3INL) Show:Asymmetric Unit Biological Assembly Drag the structure with the mouse to rotate   Export Animated Image   Print3D There are seven mutations observed in different ethnicies. Most studied of them is East Asian mutation connected with alcohol flushing syndrome and other diseases. ALDH2 designation Mutation Location AA change Major ethnicity Relative activity WT (ALDH2*1) ALDH2*2 E504K 504 Glu → Lys East Asian 0 % ALDH2*3 I41V African 60 % ALDH2*4 P92T 92 Pro → Thr Latino 32 % ALDH2*5 T244M 244 Thr → Met South Asian 38 % ALDH2*6 V304M 304 Val → Met Latino 11 % ALDH2*7 R338W 338 Arg → Trp Finnish 23 %

Proteopedia Page Contributors and Editors (what is this?)

Marek Földi, Michal Hub, Michal Harel