GTP cyclohydrolase 1 (GCH1) (NM_001024024) Human Recombinant Protein

CAT#: TP760518

Purified recombinant protein of Human GTP cyclohydrolase 1 (GCH1), transcript variant 2, full length, with N-terminal HIS tag, expressed in E.Coli, 50ug

Product Images

Specifications

Product Data

• Species: Human
• Expression Host: E. coli
• Expression cDNA Clone or AA Sequence:
  Protein Sequence

  A DNA sequence encoding human full-length GCH1
• Tag: N-His
• Predicted MW: 27.7 kDa
• Concentration: >50 ug/mL as determined by microplate BCA method
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Buffer: 25mM Tris, pH8.0, 150 mM NaCl, 10% glycerol, 1 % Sarkosyl.
• Storage: Store at -80°C.
• Stability: Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.

Reference Data

• RefSeq: NP_001019195
• Locus ID: 2643
• UniProt ID: P30793, Q8IZH9, A0A024R642
• Cytogenetics: 14q22.2
• Refseq Size: 1995
• Refseq ORF: 750
• Synonyms: DYT5; DYT5a; DYT14; GCH; GTP-CH-1; GTPCH1; HPABH4B
• 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]'
• Protein Families: Druggable Genome
• Protein Pathways: Folate biosynthesis, Metabolic pathways