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主要文件

安全信息

WH0002643M1

Sigma-Aldrich

Monoclonal Anti-GCH1 antibody produced in mouse

clone 4A12, purified immunoglobulin, buffered aqueous solution

别名:

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

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About This Item

UNSPSC代码:
12352203
NACRES:
NA.41

生物来源

mouse

质量水平

偶联物

unconjugated

抗体形式

purified immunoglobulin

抗体产品类型

primary antibodies

克隆

4A12, monoclonal

表单

buffered aqueous solution

种属反应性

human

技术

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

同位素/亚型

IgG2aκ

GenBank登记号

UniProt登记号

运输

dry ice

储存温度

−20°C

靶向翻译后修饰

unmodified

基因信息

human ... GCH1(2643)

一般描述

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.

免疫原

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

生化/生理作用

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.

外形

Solution in phosphate buffered saline, pH 7.4

法律信息

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

免责声明

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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储存分类代码

10 - Combustible liquids

闪点(°F)

Not applicable

闪点(°C)

Not applicable

个人防护装备

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

法规信息

常规特殊物品

历史批次信息供参考:

分析证书(COA)

Lot/Batch Number

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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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