3isq

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

Structural highlights

3isq is a 1 chain structure with sequence from Human. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
Ligands:	, , ,
Gene:	HPD (HUMAN)
Activity:	4-hydroxyphenylpyruvate dioxygenase, with EC number 1.13.11.27
Resources:	FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT

Disease

[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]

Function

[HPPD_HUMAN] Key enzyme in the degradation of tyrosine.

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

References

↑ 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
↑ 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
↑ 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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OCA

[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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3isq

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

Structural highlights

Disease

Function

Evolutionary Conservation

See Also

References

Contents

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3isq

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

Structural highlights

Disease

Function

Evolutionary Conservation

See Also

References

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