Order NO. D125353
产品描述
概述
This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase.
应用
酶联免疫吸附测定(ELISA),免疫印迹(WB),免疫组织化学(IHC)
属性
保存缓冲液 |
-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
|
运输条件 |
2-8°C
|
靶点 Uniprot 登记号 |
P09417
|
靶点基因 ID |
5860
|
靶点全称 |
quinoid dihydropteridine reductase
|
靶点别名 |
DHPR; PKU2; HDHPR; SDR33C1
|
靶点研究领域 |
Metabolism
|
亚型 |
Immunogen-specific rabbit IgG
|