GTP cyclohydrolase 1 (GCH1) (NM_001024024) Human Recombinant Protein
Product Specifications
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]
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
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
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
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