Recombinant Human GBA protein, His-tagged

• Cat.No.: GBA-28H
• Product Overview: Recombinant human GBA, fused to His-tag at C-terminus, was expressed in insect cell and purified by using conventional chromatography techniques.

Specification

• Description: GBA, also known as glucosylceramidase isoform 1, is a lysosomal enzyme that presumably requires a signal peptide for transport across the membrane of the rough endoplasmic reticulum and glycosylation for transport into lysosomes. Gaucher disease is due to a deficiency in the activity of the enzyme glucocerebrosidase.
• Source: Insect cell
• Species: Human
• Tag: His
• Form: Liquid. In Phosphate Buffered Saline (pH7.4) containing 10% glycerol.
• Molecular Mass: 56.4kDa (503aa) 50-70kDa (SDS–PAGE under reducing conditions)
• AA Sequence: ARPCIPKSFG YSSVVCVCNA TYCDSFDPPT FPALGTFSRY ESTRSGRRME LSMGPIQANH TGTGLLLTLQ PEQKFQKVKG FGGAMTDAAALNILALSPPA QNLLLKSYFS EEGIGYNIIR VPMASCDFSI RTYTYADTPD DFQLHNFSLP EEDTKLKIPL IHRALQLAQR PVSLLASPWTSPTWLKTNGA VNGKGSLKGQ PGDIYHQTWA RYFVKFLDAY AEHKLQFWAV TAENEPSAGL LSGYPFQCLG FTPEHQRDFI ARDLGPTLANSTHHNVRLLM LDDQRLLLPH WAKVVLTDPE AAKYVHGIAV HWYLDFLAPA KATLGETHRL FPNTMLFASE ACVGSKFWEQ SVRLGSWDRGMQYSHSIITN LLYHVVGWTD WNLALNPEGG PNWVRNFVDS PIIVDITKDT FYKQPMFYHL GHFSKFIPEG SQRVGLVASQ KNDLDAVALMHPDGSAVVVV LNRSSKDVPL TIKDPAVGFL ETISPGYSIH TYLWRRQHHH HHH
• Endotoxin: < 1.0 EU per 1 microgram of protein (determined by LAL method)
• Purity: >80% by SDS – PAGE
• Storage: Can be stored at +4 centigrade short term (1-2 weeks). For long term storage, aliquot and store at -20 centigrade or -70 centigrade. Avoid repeated freezing and thawing cycles.
• Concentration: 0.5mg/ml (determined by absorbance at 280nm)

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; alglucerase; imiglucerase; acid beta-glucosidase; beta-glucocerebrosidase; lysosomal glucocerebrosidase; D-glucosyl-N-acylsphingosine glucohydrolase; GCB; GLUC
• Gene ID: 2629
• mRNA Refseq: NM_000157
• Protein Refseq: NP_000148
• MIM: 606463
• UniProt ID: P04062
• Chromosome Location: 1q22
• Pathway: Glycosphingolipid metabolism, organism-specific biosystem; Lysosome, organism-specific biosystem; Lysosome, conserved biosystem; Metabolic pathways, organism-specific biosystem; Metabolism, organism-specific biosystem; Metabolism of lipids and lipoproteins, organism-specific biosystem; Other glycan degradation, organism-specific biosystem
• Function: cation binding; glucosylceramidase activity; hydrolase activity, acting on glycosyl bonds; receptor binding