Recombinant Full Length Human GCH1 Protein

• Cat.No.: GCH1-183HF
• Product Overview: Recombinant full length Human GTP cyclohydrolase 1 with N-terminal proprietary tag.Mol Wt 53.61 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.
• Source: In Vitro Cell Free System
• Species: Human
• Form: Liquid
• Molecular Mass: 53.610kDa inclusive of tags
• Protein Length: 251 amino acids
• AA Sequence: MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPP RPEAKSAQPADGWKGERPRSEEDNELNLPNLAAAYSSILS SLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDA IFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNK QVLGLSKLARIVEIYSRRLQVQERLTKQIAVAITEALRPA GVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKT REEFLTLIRS
• Purity: Proprietary Purification
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80 centigrade. Avoid freeze / thaw cycles.
• Storage Buffer: pH: 8.00. Constituents:0.79% Tris HCl, 0.31% Glutathione.

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