Anti-GBA antibody produced in mouse

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

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

Sequence
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ

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.

Solution in phosphate buffered saline, pH 7.4

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