| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 2643 |
Name | GCH1 |
Synonym | DYT14|DYT5|DYT5a|GCH|GTP-CH-1|GTPCH1|HPABH4B;GTP cyclohydrolase 1;GCH1;GTP cyclohydrolase 1 |
Definition | GTP cyclohydrolase I|GTP-CH-I|dystonia 14|guanosine 5'-triphosphate cyclohydrolase I |
Position | 14q22.1-q22.2 |
Gene Type | protein-coding |
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PAH Type |
Description |
PH | Supplemental Table 1: A list of genes and functional categories that comprises a PHrelevant gene module (PH-module). |
| More detail of all Human literatures about GCH1 | |
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Pathways and Diseases |
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Pathway | tetrahydrobiopterin biosynthesis II;BioCyc;PWY-5664 |
Pathway | tetrahydrobiopterin biosynthesis I;BioCyc;PWY-5663 |
Pathway | Folate biosynthesis;KEGG PATHWAY;hsa00790 |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Pathway | Tetrahydrofolate biosynthesis;PANTHER;P02742 |
Disease | Dystonia, DOPA-responsive, with or without hyperphenylalainemia;OMIM |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Inherited disorders of amino acid metabolism;KEGG DISEASE |
Disease | broad range of clinical presentations;GAD |
Disease | Hyperpehnylalaninemia, BH4-deficient, B;OMIM |
Disease | Phenylketonuria;KEGG DISEASE;H00167 |
Disease | Vitamin B deficiency;FunDO |
Disease | Myotonic disorder;FunDO |
Disease | Bipolar disorder;FunDO |
Disease | CNS metastases;FunDO |
Disease | Parkinson disease;FunDO |
Disease | Atherosclerosis;FunDO |
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External Links |
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Links to Entrez Gene | 2643 |
Links to all GeneRIF Items | 2643 |
Links to iHOP | 2643 |
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Sequence Information |
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Nucleotide Sequence |
>2643 : length: 753 atggagaagggccctgtgcgggcaccggcggagaagccgcggggcgccaggtgcagcaat gggttccccgagcgggatccgccgcggcccgggcccagcaggccggcggagaagcccccg cggcccgaggccaagagcgcgcagcccgcggacggctggaagggcgagcggccccgcagc gaggaggataacgagctgaacctccctaacctggcagccgcctactcgtccatcctgagc tcgctgggcgagaacccccagcggcaagggctgctcaagacgccctggagggcggcctcg gccatgcagttcttcaccaagggctaccaggagaccatctcagatgtcctaaacgatgct atatttgatgaagatcatgatgagatggtgattgtgaaggacatagacatgttttccatg tgtgagcatcacttggttccatttgttggaaaggtccatattggttatcttcctaacaag caagtccttggcctcagcaaacttgcgaggattgtagaaatctatagtagaagactacaa gttcaggagcgccttacaaaacaaattgctgtagcaatcacggaagccttgcggcctgct ggagtcggggtagtggttgaagcaacacacatgtgtatggtaatgcgaggtgtacagaaa atgaacagcaaaactgtgaccagcacaatgttgggtgtgttccgggaggatccaaagact cgggaagagttcctgactctcattaggagctga |
Protein Sequence |
>2643 : length: 250 MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRS EEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDA IFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQ VQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKT REEFLTLIRS |