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.

Specification

• 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: ENPQRQGLLKTPWRAASAMQFFTKG YQETISDVLNDAIFDEDHDEMVIVK DIDMFSMCEHHLVPFVGKVHIGYLP NKQVLGLSKLARIV
• Sequence Similarities: Belongs to the GTP cyclohydrolase I family.

Gene Information

• 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