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Merck

WH0002629M1

Sigma-Aldrich

Monoclonal Anti-GBA antibody produced in mouse

clone 2e2, purified immunoglobulin, buffered aqueous solution

Synonym(e):

Anti-GBA1, Anti-GCB, Anti-GLUC, Anti-glucosidase, beta; acid (includes glucosylceramidase)

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About This Item

UNSPSC-Code:
12352203
NACRES:
NA.41

Biologische Quelle

mouse

Konjugat

unconjugated

Antikörperform

purified immunoglobulin

Antikörper-Produkttyp

primary antibodies

Klon

2e2, monoclonal

Form

buffered aqueous solution

Speziesreaktivität

human

Methode(n)

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

Isotyp

IgG2aκ

GenBank-Hinterlegungsnummer

UniProt-Hinterlegungsnummer

Versandbedingung

dry ice

Lagertemp.

−20°C

Posttranslationale Modifikation Target

unmodified

Angaben zum Gen

human ... GBA(2629)

Allgemeine Beschreibung

GBA (β-glucocerebrosidase) gene is mapped to human chromosome 1q21. It is a lysosomal enzyme and is widely expressed. The protein has domain I with three‐stranded anti‐parallel β‐sheets, domain II with two β‐sheets making an immunoglobulin‐like domain and domain III with eight‐stranded β/αtriosephosphate isomerase (TIM) barrel.
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants encoding the same protein. (provided by RefSeq)

Immunogen

GBA (NP_000148, 146 a.a. ~ 235 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Sequence
SYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGS

Anwendung

Monoclonal Anti-GBA antibody has been used in immunofluorescence staining.

Biochem./physiol. Wirkung

GBA (β-glucocerebrosidase) is responsible for the conversion of the glycolipid glucocerebroside to ceramide and glucose. Mutations in this gene are associated with Gaucher disease and Parkinson disease.

Physikalische Form

Solution in phosphate buffered saline, pH 7.4

Rechtliche Hinweise

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

Haftungsausschluss

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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Lagerklassenschlüssel

10 - Combustible liquids

Flammpunkt (°F)

Not applicable

Flammpunkt (°C)

Not applicable

Persönliche Schutzausrüstung

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


Analysenzertifikate (COA)

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In der Dokumentenbibliothek finden Sie die Dokumentation zu den Produkten, die Sie kürzlich erworben haben.

Die Dokumentenbibliothek aufrufen

The relationship between glucocerebrosidase mutations and Parkinson disease
Migdalska-Richards A and Schapira AH
Journal of Neurochemistry (2016)
Stefania Zampieri et al.
International journal of molecular sciences, 22(11) (2021-06-03)
Gaucher disease (GD) is an autosomal recessive lysosomal disorder due to beta-glucosidase gene (GBA) mutations. The molecular diagnosis of GD is complicated by the presence of recombinant alleles originating from a highly homologous pseudogene. Clinical exome sequencing (CES) is a
Leelamma M Panicker et al.
Human molecular genetics, 27(5), 811-822 (2018-01-05)
Gaucher disease (GD) is caused by bi-allelic mutations in GBA1, the gene that encodes acid β-glucocerebrosidase (GCase). Individuals affected by GD have hematologic, visceral and bone abnormalities, and in severe cases there is also neurodegeneration. To shed light on the
Rodolfo Tonin et al.
Journal of neurology, 266(1), 92-101 (2018-11-02)
Patients with Gaucher Disease (GD) exhibit three phenotypes, including type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Identifying which GBA changes represent benign polymorphisms and which may result in disease-causing mutations is essential for diagnosis and
Altered Differentiation Potential of Gaucher?s Disease iPSC Neuronal Progenitors due to Wnt/b-Catenin Downregulation
Awad O, et al.
Stem Cell Reports, 9 (2017)

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