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SAB1405854

Sigma-Aldrich

Anti-GBA antibody produced in mouse

purified immunoglobulin, buffered aqueous solution

Synonym(s):

GBA1, GCB, GLUC

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About This Item

UNSPSC Code:
12352203
NACRES:
NA.41

biological source

mouse

conjugate

unconjugated

antibody form

purified immunoglobulin

antibody product type

primary antibodies

clone

polyclonal

form

buffered aqueous solution

mol wt

antigen ~59.7 kDa

species reactivity

human

technique(s)

western blot: 1 μg/mL

NCBI accession no.

NM_000157.2

General description

The GBA1 gene encodes for the lysosomal enzyme β-glucocerebrosidase (GCase). The GBA gene is mapped on the human chromosome at 1q22.

Immunogen

GBA (AAH03356.1, 1 a.a. ~ 536 a.a) full-length human protein.

Sequence
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ

Biochem/physiol Actions

β-glucocerebrosidase (GCase) facilitates the hydrolysis of glucosylceramide (Glc-Cer) to ceramide and glucose. Mutations in the GBA1 gene are associated with Gaucher′s disease, a lysosomal storage disorder, marked by the accumulation of glucosylceramide in many organs including the brain. The mutations in this gene also lead to dementia with Lewy bodies and acts as a risk factor for Parkinson′s disease. Inadequacy of the GBA1 protein harms α-synuclein tetramers and multimers.

Physical form

Solution in phosphate buffered saline, pH 7.4

Disclaimer

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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Storage Class

10 - Combustible liquids

wgk_germany

WGK 1

flash_point_f

Not applicable

flash_point_c

Not applicable

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Certificates of Analysis (COA)

Lot/Batch Number
J2191
I9201
10110

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Emory Ryan et al.
Current opinion in neurology, 32(4), 589-596 (2019-06-13)
GBA1 mutations, which result in the lysosomal disorder Gaucher disease, are the most common known genetic risk factor for Parkinson disease and Dementia with Lewy Bodies (DLB). The pathogenesis of this association is not fully understood, but further elucidation of
Amokelani C Mahungu et al.
Neurobiology of aging, 88, 156-156 (2020-02-10)
Sequence variants in glucocerebrosidase (GBA) are a major genetic risk factor for Parkinson's disease (PD), and display ethnic-dependent frequencies, for example, variants such as p.N370S and 84insGG are common in Ashkenazi Jewish patients. Notably, there are limited studies on black

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