ALDH2

From Proteopedia

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Contents 1 Introduction 2 Structure 3 Function 4 Mutations 5 Relevance 6 References

Introduction

Some kind of intro, where it’s located, coding gene is located on chromosome 12 (12q24.2), 44kpbs in lenght with 13 exons ^[1]…

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 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 There are seven mutations observed in different ethnicies. Most studied of them is East Asian mutation connected with alcohol flushing syndrome and other diseases. [2] ALDH2 designation Mutation Location AA change Major ethnicity Relative activity WT (ALDH2*1) ALDH2*2 E504K [3] 504 Glu → Lys East Asian 0 % ALDH2*3 I41V African 60 % ALDH2*4 P92T [4] 92 Pro → Thr Latino 32 % ALDH2*5 T244M [5] 244 Thr → Met South Asian 38 % ALDH2*6 V304M [6] 304 Val → Met Latino 11 % ALDH2*7 R338W [7] 338 Arg → Trp Finnish 23 %

Relevance

References

1. ↑ Wenzel P, Hink U, Oelze M, Schuppan S, Schaeuble K, Schildknecht S, Ho KK, Weiner H, Bachschmid M, Munzel T, Daiber A. Role of reduced lipoic acid in the redox regulation of mitochondrial aldehyde dehydrogenase (ALDH-2) activity. Implications for mitochondrial oxidative stress and nitrate tolerance. J Biol Chem. 2007 Jan 5;282(1):792-9. doi: 10.1074/jbc.M606477200. Epub 2006 Nov , 13. PMID:17102135 doi:http://dx.doi.org/10.1074/jbc.M606477200
2. ↑ Chen CH, Ferreira JCB, Joshi AU, Stevens MC, Li SJ, Hsu JH, Maclean R, Ferreira ND, Cervantes PR, Martinez DD, Barrientos FL, Quintanares GHR, Mochly-Rosen D. Novel and prevalent non-East Asian ALDH2 variants; Implications for global susceptibility to aldehydes' toxicity. EBioMedicine. 2020 May;55:102753. doi: 10.1016/j.ebiom.2020.102753. Epub 2020 May, 8. PMID:32403082 doi:http://dx.doi.org/10.1016/j.ebiom.2020.102753
3. ↑ E504K https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=99451499
4. ↑ P92T https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=99454838
5. ↑ T244M https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=99452531
6. ↑ V304M https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=99451318
7. ↑ R338W https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=99455550