Recombinant Human GTP cyclohydrolase 1 protein (ab114820)

製品の概要

製品の詳細

  • 由来
    Recombinant
  • 由来
    Wheat germ
  • アミノ酸配列
    • アクセッション番号
    • 生物種
      Human
    • 配列
      MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPA DGWKGERPRSEEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAAS AMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVG KVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPA GVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS
    • 分子量
      54 kDa including tags
    • 領域
      1 to 251

特性

Our Abpromise guarantee covers the use of ab114820 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • アプリケーション

    ELISA

    SDS-PAGE

    Western blot

  • 製品の状態
    Liquid
  • 備考
    Protein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • Concentration information loading...

前処理および保存

  • 保存方法および安定性

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

関連情報

  • 別名
    • dystonia 14
    • DYT 5
    • DYT14
    • DYT5
    • DYT5a
    • GCH
    • GCH 1
    • Gch1
    • GCH1_HUMAN
    • GTP CH 1
    • GTP CH I
    • GTP cyclohydrolase 1
    • GTP cyclohydrolase 1 (dopa responsive dystonia)
    • GTP cyclohydrolase I
    • GTP-CH-I
    • GTPCH 1
    • GTPCH1
    • Guanosine 5' triphosphate cyclohydrolase I
    • HPABH4B
    see all
  • 機能
    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.
  • 組織特異性
    In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).
  • パスウェイ
    Cofactor biosynthesis; 7,8-dihydroneopterin triphosphate biosynthesis; 7,8-dihydroneopterin triphosphate from GTP: step 1/1.
  • 関連疾患
    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 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 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.
  • 配列類似性
    Belongs to the GTP cyclohydrolase I family.
  • 翻訳後修飾
    Phosphorylated by casein kinase II at Ser-81 in HAECs during oscillatory shear stress; phosphorylation at Ser-81 results in increased enzyme activity.
  • 細胞内局在
    Cytoplasm. Nucleus.
  • Information by UniProt

画像

  • 12.5% SDS-PAGE Stained with Coomassie Blue

参考文献

ab114820 has not yet been referenced specifically in any publications.

レビューと Q&A

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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