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| Product Data | |
| Product Name | GTP cyclohydrolase 1 (GCH1) (NM_000161) Human Tagged ORF Clone |
| Symbol | GCH1 |
| Synonyms | DYT5; DYT5a; DYT14; GCH; GTP-CH-1; GTPCH1; HPABH4B |
| Vector | pCMV6-Entry |
| Sequence Data | >RC202893 ORF sequence Red=Cloning site Blue=ORF Green=Tags(s) TTTTGTAATACGACTCACTATAGGGCGGCCGGGAATTCGTCGACTGGATCCGGTACCGAGGAGATCTGCC GCC GCGATCGC C ATGGAGAAGGGCCCTGTGCGGGCACCGGCGGAGAAGCCGCGGGGCGCCAGGTGCAGCAATGGGTTCCCCG AGCGGGATCCGCCGCGGCCCGGGCCCAGCAGGCCGGCGGAGAAGCCCCCGCGGCCCGAGGCCAAGAGCGC GCAGCCCGCGGACGGCTGGAAGGGCGAGCGGCCCCGCAGCGAGGAGGATAACGAGCTGAACCTCCCTAAC CTGGCAGCCGCCTACTCGTCCATCCTGAGCTCGCTGGGCGAGAACCCCCAGCGGCAAGGGCTGCTCAAGA CGCCCTGGAGGGCGGCCTCGGCCATGCAGTTCTTCACCAAGGGCTACCAGGAGACCATCTCAGATGTCCT AAACGATGCTATATTTGATGAAGATCATGATGAGATGGTGATTGTGAAGGACATAGACATGTTTTCCATG TGTGAGCATCACTTGGTTCCATTTGTTGGAAAGGTCCATATTGGTTATCTTCCTAACAAGCAAGTCCTTG GCCTCAGCAAACTTGCGAGGATTGTAGAAATCTATAGTAGAAGACTACAAGTTCAGGAGCGCCTTACAAA ACAAATTGCTGTAGCAATCACGGAAGCCTTGCGGCCTGCTGGAGTCGGGGTAGTGGTTGAAGCAACACAC ATGTGTATGGTAATGCGAGGTGTACAGAAAATGAACAGCAAAACTGTGACCAGCACAATGTTGGGTGTGT TCCGGGAGGATCCAAAGACTCGGGAAGAGTTCCTGACTCTCATTAGGAGC ACGCGT ACGCGGCCGCTCGAGCAGAAACTCATCTCAGAAGAGGATCTGGCAGCAAATGATATCCTGGATT ACAAGGATGACGACGATAAGGTTTAA >RC202893 protein sequence Red=Cloning site Green=Tags(s) MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRSEEDNELNLPN LAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSM CEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPAGVGVVVEATH MCMVMRGVQKMNSKTVTSTMLGVFREDPKTREEFLTLIRS TRTRPL EQKLISEEDLAANDILDYKDDDDKV |
| Chromatograms | CHROMATOGRAMS  Sequencher program is needed, download here. |
| Restriction Sites | SgfI-MluI Cloning Scheme for this gene Plasmid Map  |
| Tag | Myc-DDK |
| ACCN | NM_000161 |
| ORF Size | 753 bp |
| OTI Disclaimer | Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery. The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info |
| OTI Annotation | This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene. |
| Reference Data | |
| RefSeq | NM_000161.1, NM_000161.2, NP_000152.1 |
| RefSeq Size | 2941 bp |
| RefSeq ORF | 753 bp |
| Locus ID | 2643 |
| Cytogenetics | 14q22.2 |
| Domains | GTP_cyclohydroI |
| Protein Families | Druggable Genome |
| Protein Pathways | Folate biosynthesis, Metabolic pathways |
| MW | 27.9 kDa |
| Gene Summary | This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008] |
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