三磷酸鸟苷环水解酶抗体
规格：1mg/1ml
英文名： GTP cyclohydrolase 1
别名： GTP-CH-1; DYT 5; DYT5; GCH 1; GCH; GCH1; GTP CH 1; GTP CH I; GTP cyclohydrolase 1 (dopa responsive dystonia); GTP cyclohydrolase 1; GTP cyclohydrolase I; GTPCH 1; GTPCH1; Guanosine 5' triphosphate cyc
分子量： 27kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human GTP-CH-1
交叉反应：Human, Mouse, Rat,
三磷酸鸟苷环水解酶抗体细胞定位：细胞核 细胞浆
产品介绍：background: GTP cyclohydrolase I (also designated dopa-responsive dystonia) catalyzes the conversion of GTP to D-erythro-7,8-dihydroneopterin triphosphate, the first and rate-limiting step in tetrahydrobiopterin (BH4) biosynthesis. Tetrahydrobiopterin is an essential cofactor for 3 aromatic amino acid monooxygenases: phenylalanine, tyrosine, and tryptophan hydroxylases. Animals can synthesize tetrahydrobiopterin in vivo from GTP through several enzymatic reactions. Function: Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown. Subcellular Location: Cytoplasm. Nucleus. Tissue Specificity: In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). Post-translational modifications: Phosphorylated by casein kinase II at Ser-81 in HAECs during oscillatory shear stress; phosphorylation at Ser-81 results in increased enzyme activity. DISEASE: Defects in GCH1 are the cause of GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]; also known as atypical severe phenylketonuria due to GTP cyclohydrolase I deficiency;. GCH1D is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is also 三磷酸鸟苷环水解酶抗体responsible for defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia type 5 (dystonia-parkinsonism with diurnal fluctuation). In this intermediate phenotype, there is marked motor delay, but no mental retardation and only minimal, if any, hyperphenylalaninemia. Defects in GCH1 are the cause of dystonia type 5 (DYT5) [MIM:128230]; also known as progressive dystonia with diurnal fluctuation, autosomal dominant Segawa syndrome or dystonia-parkinsonism with diurnal fluctuation. DYT5 is a DOPA-responsive dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT5 typically presents in childhood with 三磷酸鸟苷环水解酶抗体walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and excercise. There is a favorable response to L-DOPA without side effects. Similarity: Belongs to the GTP cyclohydrolase I family. Gene ID: 2643 Database links: Entrez Gene: 2643 Human Entrez Gene: 14528 Mouse Entrez Gene: 100286831 Rabbit Entrez Gene: 29244 Rat Omim: 600225 Human SwissProt: P30793 Human SwissProt: Q05915 Mouse SwissProt: P51596 Rabbit SwissProt: P22288 Rat Unigene: 624900 Human Unigene: 86724 Human Unigene: 10651 Mouse Unigene: 28195 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
三磷酸鸟苷环水解酶抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=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.
研究领域：**学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid