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WH0002643M1

Sigma-Aldrich

Monoclonal Anti-GCH1 antibody produced in mouse

clone 4A12, purified immunoglobulin, buffered aqueous solution

Synonyme(s) :

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

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About This Item

Code UNSPSC :
12352203
Nomenclature NACRES :
NA.41

Source biologique

mouse

Conjugué

unconjugated

Forme d'anticorps

purified immunoglobulin

Type de produit anticorps

primary antibodies

Clone

4A12, monoclonal

Forme

buffered aqueous solution

Espèces réactives

human

Technique(s)

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

Isotype

IgG2aκ

Numéro d'accès GenBank

NM_000161

Numéro d'accès UniProt

P30793

Conditions d'expédition

dry ice

Température de stockage

−20°C

Modification post-traductionnelle de la cible

unmodified

Informations sur le gène

human ... GCH1(2643)

Description générale

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.

Immunogène

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

Actions biochimiques/physiologiques

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.

Forme physique

Solution in phosphate buffered saline, pH 7.4

Informations légales

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

Clause de non-responsabilité

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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Code de la classe de stockage

10 - Combustible liquids

Point d'éclair (°F)

Not applicable

Point d'éclair (°C)

Not applicable

Équipement de protection individuelle

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

Certificats d'analyse (COA)

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Consulter la Bibliothèque de documents

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
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

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