1hdr: Difference between revisions

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~~[[Image:1hdr.png|left|200px]]~~

===THE CRYSTALLOGRAPHIC STRUCTURE OF A HUMAN DIHYDROPTERIDINE REDUCTASE NADH BINARY COMPLEX EXPRESSED IN ESCHERICHIA COLI BY A CDNA CONSTRUCTED FROM ITS RAT HOMOLOGUE===

==~~=THE CRYSTALLOGRAPHIC STRUCTURE OF A HUMAN DIHYDROPTERIDINE REDUCTASE NADH BINARY COMPLEX EXPRESSED IN ESCHERICHIA COLI BY A CDNA CONSTRUCTED FROM ITS RAT HOMOLOGUE=~~==

==Disease==

[[http://www.uniprot.org/uniprot/DHPR_HUMAN DHPR_HUMAN]] Defects in QDPR are the cause of BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:[http://omim.org/entry/261630 261630]]; also called dihydropteridine reductase deficiency (DHPR deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to DHPR deficiency or quinoid dihydropteridine reductase deficiency (QDPR deficiency). HPABH4C is a rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. These patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated.<ref>PMID:9744478</ref><ref>PMID:8326489</ref><ref>PMID:2116088</ref><ref>PMID:10408783</ref><ref>PMID:11153907</ref>

~~{{ABSTRACT_PUBMED_8262916}}~~

==Function==

[[http://www.uniprot.org/uniprot/DHPR_HUMAN DHPR_HUMAN]] The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.

==About this Structure==

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==Reference==

[[Category: 6,7-dihydropteridine reductase]]

[[Category: Homo sapiens]]

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@@ Line 1: / Line 1: @@
-[[Image:1hdr.png|left|200px]]
 {{STRUCTURE_1hdr|  PDB=1hdr  |  SCENE=  }}
+===THE CRYSTALLOGRAPHIC STRUCTURE OF A HUMAN DIHYDROPTERIDINE REDUCTASE NADH BINARY COMPLEX EXPRESSED IN ESCHERICHIA COLI BY A CDNA CONSTRUCTED FROM ITS RAT HOMOLOGUE===
+{{ABSTRACT_PUBMED_8262916}}
-===THE CRYSTALLOGRAPHIC STRUCTURE OF A HUMAN DIHYDROPTERIDINE REDUCTASE NADH BINARY COMPLEX EXPRESSED IN ESCHERICHIA COLI BY A CDNA CONSTRUCTED FROM ITS RAT HOMOLOGUE===
+==Disease==
+[[http://www.uniprot.org/uniprot/DHPR_HUMAN DHPR_HUMAN]] Defects in QDPR are the cause of BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:[http://omim.org/entry/261630 261630]]; also called dihydropteridine reductase deficiency (DHPR deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to DHPR deficiency or quinoid dihydropteridine reductase deficiency (QDPR deficiency). HPABH4C is a rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. These patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated.<ref>PMID:9744478</ref><ref>PMID:8326489</ref><ref>PMID:2116088</ref><ref>PMID:10408783</ref><ref>PMID:11153907</ref>
-{{ABSTRACT_PUBMED_8262916}}
+==Function==
+[[http://www.uniprot.org/uniprot/DHPR_HUMAN DHPR_HUMAN]] The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.
 ==About this Structure==
@@ Line 11: / Line 13: @@
 ==Reference==
-<ref group="xtra">PMID:008262916</ref><references group="xtra"/>
+<ref group="xtra">PMID:008262916</ref><references group="xtra"/><references/>
 [[Category: 6,7-dihydropteridine reductase]]
 [[Category: Homo sapiens]]