ALDH2: Difference between revisions

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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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==ALDH2==
== Introduction ==
<StructureSection load='1stp' size='340' side='right' caption='Caption for this structure' scene=''>
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>…
This is a default text for your page '''Marek Földi/ALDH2'''. Click above on '''edit this page''' to modify. Be careful with the &lt; and &gt; signs.
== Structure ==
You may include any references to papers as in: the use of JSmol in Proteopedia <ref>DOI 10.1002/ijch.201300024</ref> or to the article describing Jmol <ref>PMID:21638687</ref> to the rescue.
<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>


== Disease ==
{| 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 ==


== Structural highlights ==
This is a sample scene created with SAT to <scene name="/12/3456/Sample/1">color</scene> by Group, and another to make <scene name="/12/3456/Sample/2">a transparent representation</scene> of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes.
</StructureSection>
== References ==
== References ==
<references/>
<references/>
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