QDPR蛋白抗体

英文名称    QDPR    

中文名称    QDPR蛋白抗体    

别    名    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.    

QDPR蛋白抗体       

说 明 书    0.2ml      

研究领域    细胞生物  神经生物学  信号转导      

抗体来源    Rabbit    

克隆类型    Polyclonal    

交叉反应    Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Rabbit, Sheep,     

产品应用    WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） 
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.    

分 子 量    26kDa    

性    状    Lyophilized or Liquid    

浓    度    1mg/1ml    

免 疫 原    KLH conjugated synthetic peptide derived from human QDPR    

亚    型    IgG    

纯化方法    affinity purified by Protein A    

储 存 液    Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M PBS, pH 7.4    

保存条件    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.    

QDPR蛋白抗体产品介绍    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.

Gene ID:
5860

Database links:

Entrez Gene: 5860 Human

Entrez Gene: 110391 Mouse

Entrez Gene: 64192 Rat

Omim: 612676 Human

SwissProt: P09417 Human

SwissProt: Q8BVI4 Mouse

SwissProt: P11348 Rat

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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