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货号： bs-21005R-AF350 基本售价： 2980.0 元 规格： 100ul
产品信息
- 产品编号
- bs-21005R-AF350
- 英文名称
- Anti-PAH/PH4H/AF350
- 中文名称
- AF350标记的苯丙氨酸羟化酶4抗体
- 别 名
- PAH; pah; PH; PH4H_HUMAN; Phe 4 monooxygenase; Phe-4-monooxygenase; Phenylalanine 4 hydroxylase; Phenylalanine hydroxylase; Phenylalanine-4-hydroxylase; PKU; PKU1.
- 规格价格
- 100ul/2980元购买 大包装/询价
- 说 明 书
- 100ul
- 研究领域
- 肿瘤 细胞生物 信号转导 干细胞 激酶和磷酸酶
- 抗体来源
- Rabbit
- 克隆类型
- Polyclonal
- 交叉反应
- Human, Mouse, Rat, Cow,
- 产品应用
- ICC=1:50-200 IF=1:50-200
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
- 分 子 量
- 52kDa
- 性 状
- Lyophilized or Liquid
- 浓 度
- 1mg/ml
- 免 疫 原
- KLH conjugated synthetic peptide derived from human PAH/PH4H
- 亚 型
- IgG
- 纯化方法
- affinity purified by Protein A
- 储 存 液
- 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol
- 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.
- 产品介绍
- background:
PAH encodes the enzyme phenylalanine hydroxylase that is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Jul 2008]
Subunit:
Homodimer and homotetramer.
Tissue Specificity:
Optimum temperature is 50 degrees Celsius.
DISEASE:
Defects in PAH are the cause of phenylketonuria (PKU) [MIM:261600]. PKU is an autosomal recessive inborn error of phenylalanine metabolism, due to severe phenylalanine hydroxylase deficiency. It is characterized by blood concentrations of phenylalanine persistently above 1200 mumol (normal concentration 100 mumol) which usually causes mental retardation (unless low phenylalanine diet is introduced early in life). They tend to have light pigmentation, rashes similar to eczema, epilepsy, extreme hyperactivity, psychotic states and an unpleasant mousy odor.
Defects in PAH are the cause of non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]. Non-PKU HPA is a mild form of phenylalanine hydroxylase deficiency characterized by phenylalanine levels persistently below 600 mumol, which allows normal intellectual and behavioral development without treatment. Non-PKU HPA is usually caused by the combined effect of a mild hyperphenylalaninemia mutation and a severe one.
Defects in PAH are the cause of hyperphenylalaninemia (HPA) [MIM:261600]. HPA is the mildest form of phenylalanine hydroxylase deficiency.
Similarity:
Belongs to the biopterin-dependent aromatic amino acid hydroxylase family.Contains 1 ACT domain.
Database links:Entrez Gene: 408024Chicken
Entrez Gene: 510583Cow
Entrez Gene: 475446Dog
Entrez Gene: 5053Human
Entrez Gene: 18478Mouse
Entrez Gene: 24616Rat
Omim: 612349Human
SwissProt: Q2KIH7Cow
SwissProt: P00439Human
SwissProt: P16331Mouse
SwissProt: P04176Rat
Unigene: 603740Human
Unigene: 263539Mouse
Unigene: 1652Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.