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Product Name Anti-QDPR/APC Chinese Name APC标记的QDPR蛋白抗体 Alias 6,7 dihydropteridine reductase; DHPR; DHPR_HUMAN; Dihydropteridine reductase; HDHPR; HPR; PKU2; Qdpr; Quinoid dihydropteridine reductase; SDR33C1; Short chain dehydrogenase/reductase family 33C, member 1. Research Area Cell biology Neurobiology Signal transduction Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Dog, ) Applications ICC=1:50-200 IF=1:50-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Molecular weight 26kDa Form Lyophilized or Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human QDPR Lsotype IgG Purification affinity purified by Protein A Storage Buffer 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C. Product Detail background:
6,7 dihydropteridine reductase; DHPR; DHPR_HUMAN; Dihydropteridine reductase; HDHPR; HPR; PKU2; Qdpr; Quinoid dihydropteridine reductase; SDR33C1; Short chain dehydrogenase/reductase family 33C, member 1.
Function:
The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.
Subunit:
Homodimer.
DISEASE:
Defects in QDPR are the cause of BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM: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.
Similarity:
Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Database links:Entrez Gene: 5860 Human
Entrez Gene: 110391 Mouse
Omim: 612676 Human
SwissProt: P09417 Human
SwissProt: Q8BVI4 Mouse
Unigene: 75438 Human
Unigene: 30204 Mouse
Unigene: 241 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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