Recombinant Human GCH1 Protein, His-tagged

• Cat.No.: GCH1-801H
• Product Overview: Recombinant Human GCH1 fused with His tag at N-terminal was expressed in E. coli.

Specification

• Species: Human
• Source: E.coli
• Tag: His
• 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.
• Form: 25mM Tris, pH8.0, 150 mM NaCl, 10% glycerol, 1 % Sarkosyl.
• Molecular Mass: 27.7 kDa
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Concentration: >50 ug/mL as determined by microplate BCA method

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; GTP-CH-I; dystonia 14; GTP cyclohydrolase I; guanosine 5-triphosphate cyclohydrolase I; GCH; DYT5; DYT14; HPABH4B; GTP-CH-1
• Gene ID: 2643
• mRNA Refseq: NM_001024070
• Protein Refseq: NP_001019241
• MIM: 600225
• UniProt ID: P30793