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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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