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  4. Recombinant Human GTP cyclohydrolase 1 (GCH1)

Recombinant Human GTP cyclohydrolase 1 (GCH1)

  • 中文名称：
    人GCH1重组蛋白
  • 货号：
    CSB-YP009317HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人GCH1重组蛋白
  • 货号：
    CSB-EP009317HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人GCH1重组蛋白
  • 货号：
    CSB-EP009317HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    人GCH1重组蛋白
  • 货号：
    CSB-BP009317HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人GCH1重组蛋白
  • 货号：
    CSB-MP009317HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    GCH1
  • Uniprot No.：
  • 别名：
    dystonia 14; DYT 5; DYT14; DYT5; DYT5a; GCH 1; GCH; Gch1; GCH1_HUMAN; GTP CH 1; GTP CH I ; GTP cyclohydrolase 1 (dopa responsive dystonia); GTP cyclohydrolase 1; GTP cyclohydrolase I; GTP-CH-I; GTPCH 1; GTPCH1; Guanosine 5' triphosphate cyclohydrolase I; HPABH4B
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full length protein
  • 表达区域：
    1-250
  • 氨基酸序列
    MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ VQERLTKQIA VAITEALRPA GVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT REEFLTLIRS
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    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.
  • 基因功能参考文献：
    1. Study identified 15 patients with GCH1 mutations (15 patients from seven families and five sporadic cases). The patients presented two distinctive phenotypes of juvenile or young-onset dopa-responsive dystonia and Parkinson's disease, which clinically and radiologically shared characteristic features. GCH1 mutations induce the distinctive symptoms among young or middle age at onset. PMID: 29948246
    2. It is a genetic risk for Parkinson's disease. PMID: 29724574
    3. One novel mutation of c.679A>G (p.T227A) in GCH1 and 3 known mutations of c.457C>T (p.R153X), c.739G>A (p.G247S), and c.698G>A (p.R227H) in tyrosine hydroxylase (TH) have been found and predicted to be damaging or deleterious. PMID: 29405179
    4. Our data expand the genotypic spectrum of GCH1 and confirm the broad phenotypic spectrum of GTP cyclohydrolase 1-deficient DOPA-responsive dystonia in the Serbian population PMID: 28958832
    5. Our results suggest that rs329648 is associated with risk of developing PD in the Han Chinese population. Our findings should be verified in further studies, and they highlight the need for functional studies of MIR4697. PMID: 28380328
    6. Association analysis indicated that the Tibetan version of GCH1 was significantly associated with multiple physiological traits in Tibetans, including blood nitric oxide concentration, blood oxygen saturation, and hemoglobin concentration. PMID: 28585439
    7. This study indicates that mutations in GCH1 are rare in late-onset Parkinson disease. PMID: 27185167
    8. This study shown GCH1 genetic variants for Parkinson's disease are associated with the risk of incident Parkinson's disease in the general population and with impairment in daily functioning in individuals without clinical parkinsonism. PMID: 27269966
    9. GCH1 variants affect early PD risk through altered dopamine uptake, and aging alters how genetic factors contribute to disease development. PMID: 27871051
    10. c.550C>T mutation is associated with dopa-responsive dystonia. PMID: 28397219
    11. This study demonstrated that whole-exome sequencing show reveled GCH1 mutation with early-onset generalized dystonia. PMID: 27666935
    12. Deletion of GCH1 likely contributes to dopa-responsive dystonia. PMID: 28558098
    13. High GCH1 expression is associated with esophageal squamous cell carcinoma. PMID: 27826622
    14. Dopa-responsive dystonia phenotype may have heterogeneous genetic background and may be caused by point mutations or rearrangements in the GCH1 gene as well as in the PARK2 gene. PMID: 27667361
    15. This study found that rs11158026 (GCH1) is associated with Parkinson disease in Iran population. PMID: 27653855
    16. No association between the GCH1 pain-protective haplotype and cervical dilation was found, but a previously demonstrated association with increased use of second-line analgesia was confirmed. PMID: 26392364
    17. GTPCH/Ang-1 interaction in stromal fibroblasts and activation of Tie2 on breast tumor cells could play an important role in supporting breast cancer growth. GTPCH may be an important mechanism of paracrine tumor growth and hence a target for therapy in breast cancer. PMID: 26814432
    18. suggest that the GCH1 and MIR4697 but not SIPA1L2 and VPS13C are genetic loci influencing risk of Parkinson's disease in Taiwan PMID: 26804608
    19. The risk of orofacial clefts is associated with variants of the GCH1 gene related to BH4 metabolism. PMID: 26215833
    20. Exonic deletion in the GCH1 gene only accounted for the etiology in a small percentage of patients with sporadic dopa-responsive dystonia in our Han Chinese cohort. PMID: 26400349
    21. identified a novel missense variant, c.5A > G, p.(Glu2Gly), within the GCH1 gene in affected family members displaying a range of phenotypes; variant is pathogenic in studied family and may underlie Parkinson's disease and Dopa-responsive dystonia PMID: 25634433
    22. No association was seen between the pain protective GCH-1 haplotype and the development of hypersensitivity following injury. An increase in baseline pain thresholds was seen between visits in protective haplotype carriers who sensitized to injury. PMID: 25783971
    23. Postherniotomy pain and related activity impairment was associated with functional variations in GCH1 (and COMT). PMID: 25599448
    24. This is the first study to report changes in the expression of GTP Cyclohydrolase I of this gene in schizophrenia. PMID: 25270546
    25. Five polymorphisms forming two haplotype blocks within the GTP cyclohydrolase 1 gene are associated with endothelial dysfunction and oxidative stress. PMID: 25369080
    26. DYT5 is caused by heterozygous mutations of the GCH1 gene, located on 14q22.1-q22.2[review] PMID: 25192508
    27. This study supports to the conclusions that susceptibility to idiopathic dystonia is not greatly affected by common genetic variants of GCH1 polynorphisms. PMID: 24674769
    28. alterations in GCH1 activity affect attentional function, especially sustained attention and vigilance. PMID: 24561090
    29. Elevated phenylalanine and phenylalanine:tyrosine ratio in the blood of schizophrenia patients which may be a guanosine triphosphate cyclohydrolase-1 metabolic pathway abnormality. PMID: 24465804
    30. Rare GCH1 variants are associated with an increased risk for Parkinson's disease. PMID: 24993959
    31. A novel GCH1 gene frameshifing mutation is aooociated with the dopa-responsive dystonia in a Chinese family. PMID: 25119902
    32. Clinical features and genetic testing results of GCH1 from 19 patients that included 4 families who have been followed-up for up to 25 years were analyzed. PMID: 24018121
    33. This is the first GCH1 regulatory substitution reported to act at a post-transcriptional level, increasing the list of genetic diseases caused by abnormal translation PMID: 24124602
    34. The presence of a GCH1 haplotype with high BH4 in populations of African ancestry could explain the association of rs8007267 with sickle cell anemia pain crises. PMID: 24136375
    35. Current known dystonia genes include those related to dopamine metabolism, transcription factor, cytoskeleton, transport of glucose and sodium ion, etc. PMID: 23782819
    36. Three novel GTP cyclohydrolase I mutations were identified in familial and sporadic dopa-responsive dystonia patients. PMID: 23762320
    37. Most GCH1 mutations were found to cluster in two regions of the coding sequence, suggesting the probable existence of mutation hotspot for the first time. PMID: 23211702
    38. Our study provides evidence that certain GCH1 haplotypes may be protective against susceptibility and pain sensitivity in FM. PMID: 23322459
    39. Results suggest that GCH1 may predict response to serotonin selective reuptake inhibitors in major depressive disorder in the Japanese population. PMID: 22770721
    40. No SNPs or haplotypes in GCH1 were associated with pain intensity in a black southern African population with HIV-associated sensory neuropathy. PMID: 23314412
    41. This study reveled that Three novel mutations in GCH1 gene have been found and are shown to be associated with variable clinical phenotypes mostly within the spectrum of dopa responsive dystonia. PMID: 22373569
    42. The GCH1 3'-UTR C+243T variant was an independent predictor of worsening long-term outcomes in patients with first-onset ischemic stroke. PMID: 21181356
    43. Offspring and maternal variation in the GCH1 gene and altered tetrahydrobiopterin biosynthesis may contribute to neural tube defects risk. PMID: 23059057
    44. GTPCH1 non-covalently interacts with polyubiquitin via an ubiquitin-binding domain. PMID: 22984419
    45. The results of this study identificated and charactered of a novel 24-kb deletion spanning exon 1 and the 5' regulatory region of GCH1 causing a wide spectrum of motor and nonmotor symptoms in a large Belgian dopa-responsive dystonia family. PMID: 22976901
    46. The results of this study gave no support to the hypothesis that polymorphism in the GCH1-gene contributes to the etiology of provoked vestibulodynia . PMID: 22971341
    47. Data indicate that myocardial nitric oxide synthase 1 (NOS1) activity was increased in GCH1 transgenic mice (mGCH1-Tg). PMID: 22798524
    48. This study found that Modest genotypic associations (P<0.05) were observed for three GCH1 SNPs (rs12147422, rs3759664 and rs10483639) when comparing all cases against controls. PMID: 22172551
    49. this study reported that 2 children with dopa-responsive dystonia with GTP-cyclohydrolase 1 mutations. PMID: 22068827
    50. Subsequently, the role of GTP cyclohydrolase 1 in painful HIV-associated sensory neuropathy remains possible. PMID: 22293547

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  • 相关疾病：
    Hyperphenylalaninemia, BH4-deficient, B (HPABH4B); Dystonia, dopa-responsive (DRD)
  • 亚细胞定位：
    Cytoplasm. Nucleus.
  • 蛋白家族：
    GTP cyclohydrolase I family
  • 组织特异性：
    In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).
  • 数据库链接：

    HGNC: 4193

    OMIM: 128230

    KEGG: hsa:2643

    STRING: 9606.ENSP00000378890

    UniGene: Hs.86724