PTS cDNA ORF Clone in Cloning Vector, Mouse

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PTS cDNA ORF Clone in Cloning Vector, Mouse: 产品信息

基因
种属
Mouse
NCBI 参考序列号
基因长度
435 bp
序列特征
Identical with the Gene Bank Ref. ID sequence.
产品特征
Full length Clone DNA of Mouse 6-pyruvoyl-tetrahydropterin synthase.
质粒
载体
测序引物
SP6 and T7 or M13-47 and RV-M
质控
The plasmid is confirmed by full-length sequencing.
筛选
细菌筛选抗性
Ampicillin
储存 & 运输
运输方式
Each tube contains lyophilized plasmid.
储存条件
The lyophilized plasmid can be stored at ambient temperature for three months.

PTS cDNA ORF 核苷酸序列及氨基酸序列信息

**Sino Biological guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories.**

Citation List

PTS cDNA ORF Clone in Cloning Vector, Mouse: 别称

PTPS cDNA ORF Clone, Mouse

PTS 背景信息

PTS(6-pyruvoyltetrahydropterin synthase) belongs to the PTPS family. It catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. PTS is involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. PTS also catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin. Defects in PTS are the cause of BH4-deficient hyperphenylalaninemia type A (HPABH4A), also called 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS deficiency) or hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency. HPABH4A is an autosomal recessive disorder characterized by depletion of the neurotransmitters dopamine and serotonin, and clinically by severe neurological symptoms unresponsive to the classic phenylalanine-low diet.
全称
6-pyruvoyltetrahydropterin synthase
参考文献
  • Ashida A, et al. (1994) A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. Genomics. 24:408-10.
  • Ashida A, et al. (1993) cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase. Biochem. Biophys Res Commun. 195:1386-93.
  • Thoeny B, et al. (1992) Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. Biochem Biophys Res Commun. 189:1437-43.
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