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Key Documents

WH0002629M1

Sigma-Aldrich

Monoclonal Anti-GBA antibody produced in mouse

clone 2e2, purified immunoglobulin, buffered aqueous solution

Synonyme(s) :

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

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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

2e2, monoclonal

Forme

buffered aqueous solution

Espèces réactives

human

Technique(s)

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

Isotype

IgG2aκ

Numéro d'accès GenBank

NM_000157

Numéro d'accès UniProt

P04062

Conditions d'expédition

dry ice

Température de stockage

−20°C

Modification post-traductionnelle de la cible

unmodified

Informations sur le gène

human ... GBA(2629)

Catégories apparentées

Description générale

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)

Immunogène

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

Application

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

Actions biochimiques/physiologiques

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.

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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Description
Tarif

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)

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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
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)
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
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