抗人 PTS 抗体对
01AB01569
6-pyruvoyltetrahydropterin synthase (PTS) is a cytosolic, zinc-binding homodecameric enzyme that catalyzes the conversion of 7,8-dihydroneopterin triphosphate to 6-pyruvoyltetrahydropterin, a critical intermediate in the biosynthesis of tetrahydrobiopterin (BH4). As BH4 is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases, as well as nitric oxide synthases, PTS plays a vital role in amino acid metabolism, monoamine neurotransmitter synthesis, and vascular nitric oxide production. Pathogenic biallelic variants in the PTS gene cause BH4-deficient hyperphenylalaninemia A, an autosomal recessive disorder characterized by hyperphenylalaninemia and central dopamine and serotonin deficiencies. Clinically, affected individuals present with neurological symptoms including hypotonia, developmental delay, and movement disorders such as dystonia and parkinsonism.
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技术参数
- 靶点基因名
- PTS
- 蛋白别名
- 6-pyruvoyltetrahydropterin synthase; PTS
- UniProt
- Q03393
- 物种
- Human
产品详情
- 靶点名称
- PTS
- 蛋白名称
- 6-pyruvoyltetrahydropterin synthase
- 蛋白别名
- 6-pyruvoyl tetrahydrobiopterin synthase; PTP synthase; PTPS
- 靶点基因名
- PTS
- UniProt
- Q03393
- 来源物种
- Homo sapiens (Human)
- 物种反应性
- Human
背景介绍
6-pyruvoyltetrahydropterin synthase (PTS) is a cytosolic, zinc-binding homodecameric enzyme that catalyzes the conversion of 7,8-dihydroneopterin triphosphate to 6-pyruvoyltetrahydropterin, a critical intermediate in the biosynthesis of tetrahydrobiopterin (BH4). As BH4 is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases, as well as nitric oxide synthases, PTS plays a vital role in amino acid metabolism, monoamine neurotransmitter synthesis, and vascular nitric oxide production. Pathogenic biallelic variants in the PTS gene cause BH4-deficient hyperphenylalaninemia A, an autosomal recessive disorder characterized by hyperphenylalaninemia and central dopamine and serotonin deficiencies. Clinically, affected individuals present with neurological symptoms including hypotonia, developmental delay, and movement disorders such as dystonia and parkinsonism.