3i2b: Difference between revisions

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~~[[Image:3i2b.png|left|200px]]~~

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===The crystal structure of human 6 Pyruvoyl Tetrahydrobiopterin Synthase===

===~~The crystal structure~~ of ~~human~~ 6 ~~Pyruvoyl Tetrahydrobiopterin Synthase===~~

==Disease==

[[http://www.uniprot.org/uniprot/PTPS_HUMAN PTPS_HUMAN]] Defects in PTS are the cause of BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:[http://omim.org/entry/261640 261640]]; also called 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency. HPABH4A is an autosomal recessive disorder characterized by depletion of the neurotransmitters dopamine and serotonin, and clinically by severe neurological symptoms unresponsive to the classic phenylalanine-low diet.<ref>PMID:10531334</ref><ref>PMID:7698774</ref><ref>PMID:8178819</ref><ref>PMID:7493990</ref><ref>PMID:8707300</ref><ref>PMID:9222757</ref><ref>PMID:9159737</ref><ref>PMID:9450907</ref><ref>PMID:10585341</ref><ref>PMID:10220141</ref><ref>PMID:10874306</ref><ref>PMID:11388593</ref>

==Function==

[[http://www.uniprot.org/uniprot/PTPS_HUMAN PTPS_HUMAN]] Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.

==About this Structure==

[[3i2b]] is a 12 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3I2B OCA].

==~~See Also~~==

==Reference==

*[[Urate Oxidase]]

[[Category: 6-pyruvoyltetrahydropterin synthase]]

[[Category: Homo sapiens]]

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[[Category: Structural genomics consortium]]

[[Category: Tetrahydrobiopterin biosynthesis]]

~~[[Category: Zinc]]~~

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@@ Line 1: / Line 1: @@
-[[Image:3i2b.png|left|200px]]
-<!--
-The line below this paragraph, containing "STRUCTURE_3i2b", creates the "Structure Box" on the page.
-You may change the PDB parameter (which sets the PDB file loaded into the applet)
-or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
-or leave the SCENE parameter empty for the default display.
--->
 {{STRUCTURE_3i2b|  PDB=3i2b  |  SCENE=  }}
+===The crystal structure of human 6 Pyruvoyl Tetrahydrobiopterin Synthase===
-===The crystal structure of human 6 Pyruvoyl Tetrahydrobiopterin Synthase===
+==Disease==
+[[http://www.uniprot.org/uniprot/PTPS_HUMAN PTPS_HUMAN]] Defects in PTS are the cause of BH4-deficient hyperphenylalaninemia type A (HPABH4A) [MIM:[http://omim.org/entry/261640 261640]]; also called 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency. HPABH4A is an autosomal recessive disorder characterized by depletion of the neurotransmitters dopamine and serotonin, and clinically by severe neurological symptoms unresponsive to the classic phenylalanine-low diet.<ref>PMID:10531334</ref><ref>PMID:7698774</ref><ref>PMID:8178819</ref><ref>PMID:7493990</ref><ref>PMID:8707300</ref><ref>PMID:9222757</ref><ref>PMID:9159737</ref><ref>PMID:9450907</ref><ref>PMID:10585341</ref><ref>PMID:10220141</ref><ref>PMID:10874306</ref><ref>PMID:11388593</ref>
+==Function==
+[[http://www.uniprot.org/uniprot/PTPS_HUMAN PTPS_HUMAN]] Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.
 ==About this Structure==
 [[3i2b]] is a 12 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3I2B OCA].
-==See Also==
+==Reference==
-*[[Urate Oxidase]]
+<references group="xtra"/><references/>
 [[Category: 6-pyruvoyltetrahydropterin synthase]]
 [[Category: Homo sapiens]]
@@ Line 46: / Line 42: @@
 [[Category: Structural genomics consortium]]
 [[Category: Tetrahydrobiopterin biosynthesis]]
-[[Category: Zinc]]