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Recombinant Human GBA

Cat.No. : GBA-28984TH
Product Overview : Recombinant full length Human GBA with a N terminal proprietary tag: predicted molecular weight 84.70 kDa.
  • Specification
  • Gene Information
  • Related Products
Description : 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.
Protein length : 536 amino acids
Molecular Weight : 84.700kDa inclusive of tags
Source : Wheat germ
Form : Liquid
Purity : Proprietary Purification
Storage buffer : pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
Storage : Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
Sequences of amino acids : MEFSSPSREECPKPLSRVSIIAGSLTGLLLLQAVSWASGA RPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYE STRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGF GGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRV PMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLI HRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLL SGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLML DDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAK ATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGM QYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSP IIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLE TISPGYSIHTYLWRRQ
Sequence Similarities : Belongs to the glycosyl hydrolase 30 family.
Gene Name : GBA glucosidase, beta, acid [ Homo sapiens ]
Official Symbol : GBA
Synonyms : GBA; glucosidase, beta, acid; GLUC, glucosidase, beta; acid (includes glucosylceramidase) , glucosylceramidase; glucosylceramidase; GBA1;
Gene ID : 2629
mRNA Refseq : NM_000157
Protein Refseq : NP_000148
MIM : 606463
Uniprot ID : P04062
Chromosome Location : 1q22
Pathway : Lysosome, organism-specific biosystem; Lysosome, conserved biosystem; Metabolic pathways, organism-specific biosystem; Other glycan degradation, organism-specific biosystem; Other glycan degradation, conserved biosystem;
Function : cation binding; glucosylceramidase activity; hydrolase activity, acting on glycosyl bonds; receptor binding;

For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.

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