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

• Background:

  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]

• Synonyms:

  DYT5; DYT5a; DYT14; GCH; GTP-CH-1; GTPCH1; HPABH4B

• Gene ID:

  2643

• UniProt:

  P30793, Q8IZH9, A0A024R642

• Accession Number mRNA:

  NM_001024024

• Chromosomal Location:

  14q22.2

• Expression System:

  E. coli

• Tag:

  N-His

• Related Pathways:

  Folate biosynthesis, Metabolic pathways

• Field of Research:

  Folate biosynthesis, Metabolic pathways

• Concentration:

  >50 ug/mL as determined by microplate BCA method

• Purity:

  > 80% as determined by SDS-PAGE and Coomassie blue staining

• Form:

  Liquid

• Buffer:

  25mM Tris, pH8.0, 150 mM NaCl, 10% glycerol, 1 % Sarkosyl.

• Function:

  Druggable Genome

• Molecular Weight:

  27.7 kDa

• Storage Conditions:

  Stable for 1 year at -20°C or below from date of shipment. For maximum recovery of product, centrifuge the original vial after thawing and opening the cap. For long-term storage, aliquot and store at -20°C or below. Avoid repeated freeze-thaw cycles.

• Symbol:

  GCH1

• Species:

  Human

• Protein ID:

  NP_001019195

• Overview:

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

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/gene/2643

• Uniprot URL:

  https://www.uniprot.org/uniprot/P30793

• Accession Number mRNA URL:

  https://www.ncbi.nlm.nih.gov/nuccore/NM_001024024

• Protein ID Link:

  https://www.ncbi.nlm.nih.gov/nuccore/NP_001019195