Recombinant Full Length Human GBA Protein

• Cat.No.: GBA-186HF
• Product Overview: Recombinant full length Human GBA with a N terminal proprietary tag: predicted molecular weight 84.70 kDa.

Specification

• 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.
• Source: In Vitro Cell Free System
• Species: Human
• Form: Liquid
• Molecular Mass: 84.700kDa inclusive of tags
• Protein Length: 536 amino acids
• AA Sequence: MEFSSPSREECPKPLSRVSIIAGSLTGLLLLQAVSWASGA RPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYE STRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGF GGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRV PMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLI HRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQP GDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLL SGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLML DDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAK ATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGM QYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSP IIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQK NDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLE TISPGYSIHTYLWRRQ
• Purity: Proprietary Purification
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80 centigrade. Avoid freeze / thaw cycles.
• Storage Buffer: pH: 8.00. Constituents:0.79% Tris HCl, 0.31% Glutathione.

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