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Key Documents

WH0002643M1

Sigma-Aldrich

Monoclonal Anti-GCH1 antibody produced in mouse

clone 4A12, purified immunoglobulin, buffered aqueous solution

Sinonimo/i:

Anti-DYT5, Anti-GCH, Anti-GTP cyclohydrolase 1 (dopa-responsive dystonia), Anti-GTPCH1

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About This Item

Codice UNSPSC:
12352203
NACRES:
NA.41

Origine biologica

mouse

Livello qualitativo

100

Coniugato

unconjugated

Forma dell’anticorpo

purified immunoglobulin

Tipo di anticorpo

primary antibodies

Clone

4A12, monoclonal

Forma fisica

buffered aqueous solution

Reattività contro le specie

human

tecniche

immunohistochemistry (formalin-fixed, paraffin-embedded sections): suitable
immunoprecipitation (IP): suitable
indirect ELISA: suitable
western blot: 1-5 μg/mL

Isotipo

IgG2aκ

N° accesso Genebanck

NM_000161

N° accesso UniProt

P30793

Condizioni di spedizione

dry ice

Temperatura di conservazione

−20°C

modifica post-traduzionali bersaglio

unmodified

Informazioni sul gene

human ... GCH1(2643)

Descrizione generale

Guanosine triphosphate (GTP) cyclohydrolase I (GCH1), a homodecameric protein belongs to the GTP cyclohydrolase family. Many isoforms of GCH1 are present due to alternative splicing. However, not all variants encode a functional enzyme. The GCH1 gene is mapped to human chromosome 14q22.2.

Immunogeno

GCH1 (NP_000152, 84 a.a. ~ 172 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Sequence
ENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDAIFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIV

Azioni biochim/fisiol

Guanosine triphosphate (GTP) cyclohydrolase I (GCH1) catalyzes the synthesis of 7,8-dihydroneopterin triphosphate from GTP. It acts as a rate-limiting enzyme in the tetrahydrobiopterin (BH4) biosynthesis pathway. GCH1 requires zinc (Zn2+) for its catalytic function. It is crucial for dopamine synthesis, and its variants may have a role in the pathogenesis of Parkinson′s disease (PD). Mutations in the GCH1 gene are implicated in Segawa disease, hyperphenylalaninemia, and dopa-responsive dystonia (DRD). GCH1 gene polymorphisms are correlated to the pathophysiology of obstructive sleep apnea (OSA) and in neuropathic pain and stroke.

Stato fisico

Solution in phosphate buffered saline, pH 7.4

Note legali

GenBank is a registered trademark of United States Department of Health and Human Services

Esclusione di responsabilità

Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.

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Codice della classe di stoccaggio

10 - Combustible liquids

Punto d’infiammabilità (°F)

Not applicable

Punto d’infiammabilità (°C)

Not applicable

Dispositivi di protezione individuale

Eyeshields, Gloves, multi-purpose combination respirator cartridge (US)

Certificati d'analisi (COA)

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Julian D Widder et al.
Circulation research, 101(8), 830-838 (2007-08-21)
An essential cofactor for the endothelial NO synthase is tetrahydrobiopterin (H4B). In the present study, we show that in human endothelial cells, laminar shear stress dramatically increases H4B levels and enzymatic activity of GTP cyclohydrolase (GTPCH)-1, the first step of
Uladzislau Rudakou et al.
Neurobiology of aging, 73, 231-231 (2018-10-14)
GCH1 encodes the enzyme guanosine triphospahte (GTP) cyclohydrolase 1, essential for dopamine synthesis in nigrostriatal cells, and rare mutations in GCH1 may lead to Dopa-responsive dystonia (DRD). While GCH1 is implicated in genomewide association studies in Parkinson's disease (PD), only
Wai-Kwan Siu
Translational pediatrics, 4(2), 175-180 (2016-02-03)
The monoamine neurotransmitter disorders are a heterogeneous group of inherited neurological disorders involving defects in the metabolism of dopamine, norepinephrine, epinephrine and serotonin. The inheritance of these disorders is mostly autosomal recessive. The neurological symptoms are primarily attributable to cerebral
Takahiro Suzuki et al.
European journal of biochemistry, 271(2), 349-355 (2004-01-14)
GTP cyclohydrolase I (GCH) is the rate-limiting enzyme for the synthesis of tetrahydrobiopterin and its activity is important in the regulation of monoamine neurotransmitters such as dopamine, norepinephrine and serotonin. We have studied the action of divalent cations on the
Samaneh Sheikhi Kouhsar et al.
Scientific reports, 9(1), 18664-18664 (2019-12-11)
Several studies have recently investigated the contribution of genetic factors in obstructive sleep apnea (OSA). Patients with OSA suffer from a reduction in nitric oxide (NO) serum level. This study investigated rs841, A930G p22phox, and rs1799983 polymorphisms in three critical
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