User:Tereza Čalounová/Sandbox 1
From Proteopedia
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This is our page where we will share informations about protein Tafazzin as a part of a school project with my classmates. This page is under a construction so please be aware of it. | This is our page where we will share informations about protein Tafazzin as a part of a school project with my classmates. This page is under a construction so please be aware of it. | ||
| + | Zde přidám úvod | ||
==Tafazzin== | ==Tafazzin== | ||
{{Theoretical_model}} | {{Theoretical_model}} | ||
| - | <StructureSection load='Tafazzinpredictedstructure.pdb' size='350' side='right' caption=' | + | <StructureSection load='Tafazzinpredictedstructure.pdb' size='350' side='right' caption='Theoretical model of Tafazzin made using [https://swissmodel.expasy.org/repository/uniprot/Q16635 SWISS-MODEL].' scene='81/813423/Tafazzinpredictedcartoon/1'> |
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== Function == | == Function == | ||
| + | === Gene ontology === | ||
| + | ==== Molecular function ==== | ||
| + | ==== Biological process ==== | ||
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=== Cardiolipin === | === Cardiolipin === | ||
| - | + | == TAZ gene == | |
== Disease - Barth syndrome== | == Disease - Barth syndrome== | ||
Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linked genetic disorder. The disease is caused by mutation in TAZ gene which encodes for protein tafazzin. <ref name="cit1">https://ghr.nlm.nih.gov/condition/barth-syndrome#</ref> Tafazzin works as an [https://en.wikipedia.org/wiki/Acyltransferase acyltransferase]in complex lipid metabolism, it is responsible for altering immature [https://en.wikipedia.org/wiki/Cardiolipin cardiolipin]- intermediate [https://en.wikipedia.org/wiki/Monolysocardiolipin monolysocardiolipin](with three linoleic acid side chains) (MLCL). <ref name="cit2">https://www.sciencedirect.com/science/article/pii/S092544391830334X?via%3Dihub</ref> <ref name="cit3">https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/pd.2599</ref> Cardiolipin makes up 20% of mitochondrial lipids and is closely connected with the electron transport chain proteins and the inner membrane structure of the mitochondria. <ref name="cit4">https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/tafazzin</ref> Mutations in TAZ gene lead to tafazzin not working properly, immature cardiolipin accumulates whereas the level of cardiolipin is low (mature cardiolopin has four linoleic acid side chains).<ref name="cit2" /><ref name="cit3" /> Mitochondria in affected patients are not having a normal shape and functions. Reduced energy production of mitochondria results in apoptosis of cells in tissues with high energy demands, especially cardiac and skeletal muscles. Moreover abnormally shaped mitochondria in white blood cells may affect their ability to proliferate. This causes [https://en.wikipedia.org/wiki/Neutropenia neutropenia]- decreased amount of white blood cells leading to higher risk of infections. <ref name="cit1" /> | Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linked genetic disorder. The disease is caused by mutation in TAZ gene which encodes for protein tafazzin. <ref name="cit1">https://ghr.nlm.nih.gov/condition/barth-syndrome#</ref> Tafazzin works as an [https://en.wikipedia.org/wiki/Acyltransferase acyltransferase]in complex lipid metabolism, it is responsible for altering immature [https://en.wikipedia.org/wiki/Cardiolipin cardiolipin]- intermediate [https://en.wikipedia.org/wiki/Monolysocardiolipin monolysocardiolipin](with three linoleic acid side chains) (MLCL). <ref name="cit2">https://www.sciencedirect.com/science/article/pii/S092544391830334X?via%3Dihub</ref> <ref name="cit3">https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/pd.2599</ref> Cardiolipin makes up 20% of mitochondrial lipids and is closely connected with the electron transport chain proteins and the inner membrane structure of the mitochondria. <ref name="cit4">https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/tafazzin</ref> Mutations in TAZ gene lead to tafazzin not working properly, immature cardiolipin accumulates whereas the level of cardiolipin is low (mature cardiolopin has four linoleic acid side chains).<ref name="cit2" /><ref name="cit3" /> Mitochondria in affected patients are not having a normal shape and functions. Reduced energy production of mitochondria results in apoptosis of cells in tissues with high energy demands, especially cardiac and skeletal muscles. Moreover abnormally shaped mitochondria in white blood cells may affect their ability to proliferate. This causes [https://en.wikipedia.org/wiki/Neutropenia neutropenia]- decreased amount of white blood cells leading to higher risk of infections. <ref name="cit1" /> | ||
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(https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/pd.2599) | (https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/pd.2599) | ||
| - | == | + | == 3D Structure: Homology Model == |
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| - | 3D | + | |
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Revision as of 13:02, 27 April 2019
This is our page where we will share informations about protein Tafazzin as a part of a school project with my classmates. This page is under a construction so please be aware of it. Zde přidám úvod
Tafazzin
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References
- ↑ 1.0 1.1 https://ghr.nlm.nih.gov/condition/barth-syndrome#
- ↑ 2.0 2.1 https://www.sciencedirect.com/science/article/pii/S092544391830334X?via%3Dihub
- ↑ 3.0 3.1 3.2 https://obgyn.onlinelibrary.wiley.com/doi/full/10.1002/pd.2599
- ↑ https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/tafazzin
