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Recombinant Human GCH1

Cat.No.: GCH1-28283TH
Product Overview: Recombinant fragment of Human GTP cyclohydrolase 1 with N-terminal proprietary tag.Mol Wt 35.42 kDa inclusive of tag.
Description: 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.
Protein length: 89 amino acids
Molecular Weight: 35.420kDa inclusive of tags
Source: Wheat germ
Tissue specificity: In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level).
Form: Liquid
Purity: Proprietary Purification
Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
Sequences of amino acids: ENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIV
Sequence Similarities: Belongs to the GTP cyclohydrolase I family.
Gene Name: GCH1 GTP cyclohydrolase 1 [ Homo sapiens ]
Official Symbol: GCH1
Synonyms: GCH1; GTP cyclohydrolase 1; dystonia 14 , DYT5, DYT14, GCH; dopa responsive dystonia; DYT5a; GTPCH1;
Gene ID: 2643
mRNA Refseq: NM_000161
Protein Refseq: NP_000152
MIM: 600225
Uniprot ID: P30793
Chromosome Location: 14q22.1-q22.2
Pathway: Folate biosynthesis, organism-specific biosystem; Folate biosynthesis, conserved biosystem; Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of nitric oxide, organism-specific biosystem;
Function: GTP binding; GTP cyclohydrolase I activity; NOT GTP cyclohydrolase I activity; GTP-dependent protein binding; calcium ion binding;

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