ALDH2: Difference between revisions
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Marek Földi (talk | contribs) New page: ==ALDH2== <StructureSection load='1stp' size='340' side='right' caption='Caption for this structure' scene=''> This is a default text for your page '''Marek Földi/ALDH2'''. Click above on... |
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== | == Introduction == | ||
<StructureSection load=' | Some kind of intro, where it’s located, coding gene is located on chromosome 12 (12q24.2), 44kpbs in lenght with 13 exons <ref>DOI:10.1074/jbc.M606477200</ref>… | ||
== Structure == | |||
<StructureSection load='3N80' size='350' side='right' caption='Human mitochondrial aldehyde dehydrogenase, apo form (PDB entry [http://doi.org/10.2210/pdb3N80/pdb 3N80])' scene=''> | |||
Homotetramer ... | |||
</StructureSection> | |||
== Function == | == Function == | ||
Detoxifying of toxic aldehydes, involved in many pathways such as ethanol breakdown, lipid metabolization, role in oxidative stress of cell. | |||
== Mutations == | |||
<StructureSection load='3INL' size='350' side='right' caption='Human Mitochondrial Aldehyde Dehydrogenase Asian Variant, ALDH2*2, complexed with agonist Alda-1 (PDB entry [http://doi.org/10.2210/pdb3INL/pdb 3INL])' scene=''> | |||
There are seven mutations observed in different ethnicies. Most studied of them is East Asian mutation connected with alcohol flushing syndrome and other diseases. <ref name="nov2020">DOI: 10.1016/j.ebiom.2020.102753</ref> | |||
== | {| class="wikitable" | ||
|- | |||
! ''ALDH2'' designation | |||
! Mutation | |||
! Location | |||
! AA change | |||
! Major ethnicity | |||
! Relative activity | |||
|- | |||
| '''WT (''ALDH2*1'')''' | |||
| | |||
| | |||
| | |||
| | |||
| | |||
|- | |||
| '''''ALDH2*2''''' | |||
| E504K <ref>E504K https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=99451499</ref> | |||
| 504 | |||
| Glu → Lys<br /> | |||
| East Asian | |||
| 0 % | |||
|- | |||
| '''''ALDH2*3''''' | |||
| I41V | |||
| | |||
| | |||
| African | |||
| 60 % | |||
|- | |||
| '''''ALDH2*4''''' | |||
| P92T <ref>P92T https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=99454838</ref> | |||
| 92 | |||
| Pro → Thr | |||
| Latino | |||
| 32 % | |||
|- | |||
| '''''ALDH2*5''''' | |||
| T244M <ref>T244M https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=99452531</ref> | |||
| 244 | |||
| Thr → Met | |||
| South Asian | |||
| 38 % | |||
|- | |||
| '''''ALDH2*6''''' | |||
| V304M <ref>V304M https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=99451318</ref> | |||
| 304 | |||
| Val → Met | |||
| Latino | |||
| 11 %<br /> | |||
|- | |||
| '''''ALDH2*7''''' | |||
| R338W <ref>R338W https://cancer.sanger.ac.uk/cosmic/mutation/overview?id=99455550</ref> | |||
| 338 | |||
| Arg → Trp | |||
| Finnish | |||
| 23 % | |||
|} | |||
</StructureSection> | |||
== Relevance == | == Relevance == | ||
== References == | == References == | ||
<references/> | <references/> | ||
Revision as of 21:06, 26 April 2022
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
| ||||||||||||
Function
Detoxifying of toxic aldehydes, involved in many pathways such as ethanol breakdown, lipid metabolization, role in oxidative stress of cell.
Mutations
| ||||||||||||
Relevance
References
- ↑ 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:https://dx.doi.org/10.1074/jbc.M606477200
