Size:100ug. Other sizes are also available. For further information, please contact us.
Research Areas:Neuroscience
Uniprot ID:P04062
Gene Names:GBA
Organism:Homo sapiens (Human)
AA Sequence:ARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
Expression Region:40-536aa
Sequence Info:Full Length of Mature Protein
Source:E.coli
Tag Info:N-terminal 10xHis-SUMO-tagged and C-terminal Myc-tagged
MW:75.6 kDa
Alternative Name(s):Acid beta-glucosidase (Alglucerase) (Beta-glucocerebrosidase)
Relevance:
Reference:"Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease." Winfield S.L., Tayebi N., Martin B.M., Ginns E.I., Sidransky E. Genome Res. 7:1020-1026(1997)
Purity:Greater than 85% as determined by SDS-PAGE.
Form:Liquid or Lyophilized powder
Buffer:If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution:We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20?/-80?. Our default final concentration of glycerol is 50%. Customers could use it as reference.
Storage:The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself. Generally, the shelf life of liquid form is 6 months at -20?/-80?. The shelf life of lyophilized form is 12 months at -20?/-80?.
Notes:Repeated freezing and thawing is not recommended. Store working aliquots at 4? for up to one week.
Function:
Involvement in disease:Gaucher disease (GD); Gaucher disease 1 (GD1); Gaucher disease 2 (GD2); Gaucher disease 3 (GD3); Gaucher disease 3C (GD3C); Gaucher disease perinatal lethal (GDPL); Parkinson disease (PARK)
Subcellular Location:Lysosome membrane, Peripheral membrane protein, Lumenal side
Protein Families:Glycosyl hydrolase 30 family
Tissue Specificity:
Paythway:
HGNC Database Link:https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=HGNC:4177
UniGene Database Link:https://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=282997
KEGG Database Link:https://www.genome.jp/dbget-bin/www_bget?hsa:2629
STRING Database Link:https://string-db.org/network/9606.ENSP00000314508
OMIM Database Link:https://www.omim.org/entry/168600168600168600
Lead Time Guidance:3-7 business days