Recombinant Human GBA Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: GBA-2488H
• Product Overview: GBA MS Standard C13 and N15-labeled recombinant protein (NP_001005742) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

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: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 59.72 kDa
• AA Sequence: MEFSSPSREECPKPLSRVSIMAGSL TGLLLLQAVSWASGARPCIPKSFGY SSVVCVCNATYCDSFDPPTFPALGT FSRYESTRSGRRMELSMGPIQANHT GTGLLLTLQPEQKFQKVKGFGGAMT DAAALNILALSPPAQNLLLKSYFSE EGIGYNIIRVPMASCDFSIRTYTYA DTPDDFQLHNFSLPEEDTKLKIPLI HRALQLAQRPVSLLASPWTSPTWLK TNGAVNGKGSLKGQPGDIYHQTWAR YFVKFLDAYAEHKLQFWAVTAENEP SAGLLSGYPFQCLGFTPEHQRDFIA RDLGPTLANSTHHNVRLLMLDDQRL LLPHWAKVVLTDPEAAKYVHGIAVH WYLDFLAPAKATLGETHRLFPNTML FASEACVGSKFWEQSVRLGSWDRGM QYSHSIITNLLYHVVGWTDWNLALN PEGGPNWVRNFVDSPIIVDITKDTF YKQPMFYHLGHFSKFIPEGSQRVGL VASQKNDLDAVALMHPDGSAVVVVL NRSSKDVPLTIKDPAVGFLETISPG YSIHTYLWRRQTRTRPLEQKLISEE DLAANDILDYKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: GBA glucosylceramidase beta [ Homo sapiens (human) ]
• Official Symbol: GBA
• Synonyms: GBA; glucosidase, beta, acid; GLUC, glucosidase, beta; acid (includes glucosylceramidase), glucosylceramidase; glucosylceramidase; GBA1; alglucerase; imiglucerase; acid beta-glucosidase; beta-glucocerebrosidase; lysosomal glucocerebrosidase; D-glucosyl-N-acylsphingosine glucohydrolase; GCB; GLUC
• Gene ID: 2629
• mRNA Refseq: NM_001005742
• Protein Refseq: NP_001005742
• MIM: 606463
• UniProt ID: P04062