3isq: Difference between revisions

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{{STRUCTURE_3isq|  PDB=3isq  |  SCENE=  }}  
{{STRUCTURE_3isq|  PDB=3isq  |  SCENE=  }}  
===Crystal structure of human 4-Hydroxyphenylpyruvate dioxygenase===
===Crystal structure of human 4-Hydroxyphenylpyruvate dioxygenase===


==Disease==
[[http://www.uniprot.org/uniprot/HPPD_HUMAN HPPD_HUMAN]] Defects in HPD are the cause of tyrosinemia type 3 (TYRO3) [MIM:[http://omim.org/entry/276710 276710]]. TYRO3 is an inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.<ref>PMID:10942115</ref><ref>PMID:11073718</ref>  Defects in HPD are a cause of hawkinsinuria (HAWK) [MIM:[http://omim.org/entry/140350 140350]]. HAWK is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine.<ref>PMID:11073718</ref>


==Disease==
==Function==
Known disease associated with this structure: Hawkinsinuria OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695 609695]], Tyrosinemia, type III OMIM:[[http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=609695 609695]]
[[http://www.uniprot.org/uniprot/HPPD_HUMAN HPPD_HUMAN]] Key enzyme in the degradation of tyrosine.  


==About this Structure==
==About this Structure==
3ISQ is a 1 chain structure of 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=3ISQ OCA].  
[[3isq]] is a 1 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=3ISQ OCA].  
 
==Reference==
<references group="xtra"/><references/>
[[Category: 4-hydroxyphenylpyruvate dioxygenase]]
[[Category: 4-hydroxyphenylpyruvate dioxygenase]]
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
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[[Category: Weigelt, J.]]
[[Category: Weigelt, J.]]
[[Category: Yue, W W.]]
[[Category: Yue, W W.]]
[[Category: Acetylation]]
[[Category: Dioxygenase]]
[[Category: Dioxygenase]]
[[Category: Disease mutation]]
[[Category: Disease mutation]]
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[[Category: Phenylalanine catabolism]]
[[Category: Phenylalanine catabolism]]
[[Category: Phosphoprotein]]
[[Category: Phosphoprotein]]
[[Category: Polymorphism]]
[[Category: Sgc]]
[[Category: Sgc]]
[[Category: Structural genomic]]
[[Category: Structural genomic]]
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[[Category: Tyrosine catabolism]]
[[Category: Tyrosine catabolism]]
[[Category: Tyrosine metabolism]]
[[Category: Tyrosine metabolism]]
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Sep 16 09:14:05 2009''

Revision as of 21:07, 24 March 2013

Template:STRUCTURE 3isq

Crystal structure of human 4-Hydroxyphenylpyruvate dioxygenaseCrystal structure of human 4-Hydroxyphenylpyruvate dioxygenase

DiseaseDisease

[HPPD_HUMAN] Defects in HPD are the cause of tyrosinemia type 3 (TYRO3) [MIM:276710]. TYRO3 is an inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.[1][2] Defects in HPD are a cause of hawkinsinuria (HAWK) [MIM:140350]. HAWK is an inborn error of tyrosine metabolism characterized by failure to thrive, persistent metabolic acidosis, fine and sparse hair, and excretion of the unusual cyclic amino acid metabolite, hawkinsin, in the urine.[3]

FunctionFunction

[HPPD_HUMAN] Key enzyme in the degradation of tyrosine.

About this StructureAbout this Structure

3isq is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

ReferenceReference

  1. ↑ Ruetschi U, Cerone R, Perez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. Hum Genet. 2000 Jun;106(6):654-62. PMID:10942115
  2. ↑ Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, Boneh A, Scott CR, Danks DM, Endo F. Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Mol Genet Metab. 2000 Nov;71(3):506-10. PMID:11073718 doi:10.1006/mgme.2000.3085
  3. ↑ Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, Boneh A, Scott CR, Danks DM, Endo F. Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Mol Genet Metab. 2000 Nov;71(3):506-10. PMID:11073718 doi:10.1006/mgme.2000.3085

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