Beta-Glucocerebrosidase (GBA)

Specification

• Cat#: THP-0246
• Product Name: Beta-Glucocerebrosidase (GBA)
• Description: GBA produced in Sf9 Baculovirus cells is a single, glycosylated polypeptide chain containing 503 amino acids (40-536a.a.) and having a molecular mass of 56.4kDa. (Molecular size on SDS-PAGE will appear at approximately 50-70kDa). GBA is expressed with a 6 amino acid His tag at C-Terminus and purified by proprietary chromatographic techniques.
• Sequences: ARPCIPKSFG YSSVVCVCNA TYCDSFDPPT FPALGTFSRY ESTRSGRRME LSMGPIQANH TGTGLLLTLQ PEQKFQKVKG FGGAMTDAAA LNILALSPPA QNLLLKSYFS EEGIGYNIIR VPMASCDFSI RTYTYADTPD DFQLHNFSLP EEDTKLKIPL IHRALQLAQR PVSLLASPWT SPTWLKTNGA VNGKGSLKGQ PGDIYHQTWA RYFVKFLDAY AEHKLQFWAV TAENEPSAGL LSGYPFQCLG FTPEHQRDFI ARDLGPTLAN STHHNVRLLM LDDQRLLLPH WAKVVLTDPE AAKYVHGIAV HWYLDFLAPA KATLGETHRL FPNTMLFASE ACVGSKFWEQ SVRLGSWDRG MQYSHSIITN LLYHVVGWTD WNLALNPEGG PNWVRNFVDS PIIVDITKDT FYKQPMFYHL GHFSKFIPEG SQRVGLVASQ KNDLDAVALM HPDGSAVVVV LNRSSKDVPL TIKDPAVGFL ETISPGYSIH TYLWRRQ HHH HHH
• Species: Human
• Molecular Weight: 56.4 kDa
• Source: Sf9 Baculovirus Cells
• Introduction: Beta-Glucocerebrosidase, also known as GBA is amember of the glycosyl hydrolase 30 family. GBA is a lysosomal enzyme which requires a signal peptide for transport across the membrane of the rough endoplasmic reticulum as well as glycosylation for transport into lysosomes. Furthermore, Gaucher disease is caused by a deficiency in the activity of the enzyme glucocerebrosidase.
• Purity: >80% as determined by SDS-PAGE.
• Formulation: Sterile Filtered colorless solution. GBA protein solution (0.5mg/ml) contains Phosphate Buffered Saline (pH7.4) and 10% glycerol.
• Storage: Store at 4 centigrade if entire vial will be used within 2-4 weeks. Store, frozen at -20 centigrade for longer periods of time. Avoid multiple freeze-thaw cycles.

Pharmaceutical Information

• Applications: Treating Gaucher disease.
• Examples of Clinical Use: Treating Gaucher disease.
• Affected organisms: Humans

Related Reading

Beta-Glucocerebrosidase (GBA) is an enzyme that can accelerate the hydrolysis of stearylceramidate glucoside, converting it into glucose and ceramidate. The deficiency or dysfunction of this enzyme is associated with many diseases, including hyperlipidemia, pernicious anemia, and hypertension.

Background on GBA

The GBA is encoded by the GBA gene in the human body, which is located on chromosome 1 and encodes for alkalinity β- Glucosidase, with a molecular weight of approximately 59kDa. The structure of GBA is composed of two aggregated peptide chains, including 324 amino acid residues, with three N-glycosylation sites and six intramolecular disulfide bonds.

The Function of GBA

GBA is a scavenging enzyme for stearylceramidate glucoside, which can hydrolyze glucoside groups and release glucose and ceramides. This enzyme is widely distributed in various tissues of the human body, but its expression is highest in the liver and bone marrow.

GBA related signaling pathway

The pathway where GBA is located is mainly the acidic glucosidase pathway. Acid glucosidase pathway refers to the pathway of glucosidase activation in acidic environment. This pathway is activated in endoplasmic reticulum, and GBA is activated by calcium ion and low pH value.

Diseases related to GBA

Due to the association between the loss or dysfunction of GBA and various diseases, this enzyme has been widely studied. In patients with Gaucher's disease, the function of GBA is inhibited, leading to the accumulation of stearylceramidate glycosides in the liver and spleen, leading to tissue damage and dysfunction. In addition, GBA is also associated with diseases such as Parkinson's disease, Lewy corpuscular disease, and Moyamoya disease.

The Application of GBA in Medicine

In recent years, researchers have developed an enzyme replacement therapy (ERT) for Gaucher's disease using the efficacy of GBA (such as Zeruzuzumab injection). ERT is a drug based on GBA and has been widely used worldwide.

GBA related drugs under development

With in-depth research on the GBA, more and more drugs related to this enzyme have been developed. Taking cerebrospinal fluid glial neurotrophin as an example, the drug is a small molecule reagent, which can significantly improve the activity of GBA and reduce the accumulation of stearyl ceramide glucoside. At the same time, it also shows a prospect for the clinical treatment of Parkinson's disease and Lewy body disease. In addition, some drugs such as gliclazide (Gliclazide) and Cantabria Research Institute preforms are already being studied and have received widespread attention.