GTP cyclohydrolase 1 (GCH1) (NM_000161) 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

Recombinant protein of human GTP cyclohydrolase 1 (GCH1), 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, A0A024R642

Accession Number mRNA

NM_000161

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.