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.
| biological source | mouse |
| Quality Segment | 100 |
| 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 |
| UniProt accession no. | P04062 |
| shipped in | dry ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... GBA(2629) |
