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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.
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;

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