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

• Species: Human
• Source: Wheat Germ
• Tag: Non
• Protein Length: 536 amino acids
• 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.
• Molecular Weight: 84.700kDa inclusive of tags
• 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 Information

• 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