Recombinant Human GTP cyclohydrolase 1 (GCH1)

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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HGNC: 4193

OMIM: 128230

KEGG: hsa:2643

STRING: 9606.ENSP00000378890

UniGene: Hs.86724