Recombinant Human GBA therapeutic protein

• Cat.No.: GBA-P034H
• Product Overview: Human Beta-glucocerebrosidase or Beta-D-glucosyl-N-acylsphingosine glucohydrolase (E.C. 3.2.1.45). 497 residue protein with N-linked carbohydrates, MW=59.3 kD. It is prepared by modification of the oligosaccharide chains of human Beta-glucocerebrosidase. The modification alters the sugar residues at the non-reducing ends of the oligosaccharide chains of the glycoprotein so that they are predominantly terminated with mannose residues.It catalyzes the hydrolysis of the glycolipid, glucocerebroside, to glucose and ceramide as part of the normal degradation pathway for membrane lipids.

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.
• Species: Human
• Molecular Mass: 55.6 kDa
• AA Sequence: ARPCIPKSFGYSSVVCVCNATYCDS FDPPTFPALGTFSRYESTRSGRRME LSMGPIQANHTGTGLLLTLQP EQKFQKVKGFGGAMTDAAALNILAL SPPAQNLLLKSYFSEEGIGYNIIRV PMASCDFSIRTYTYADTPDDF QLHNFSLPEEDTKLKIPLIHRALQL AQRPVSLLASPWTSPTWLKTNGAVN GKGSLKGQPGDIYHQTWARYF VKFLDAYAEHKLQFWAVTAENEPSA GLLSGYPFQCLGFTPEHQRDFIARD LGPTLANSTHHNVRLLMLDDQ RLLLPHWAKVVLTDPEAAKYVHGIA VHWYLDFLAPAKATLGETHRLFPNT MLFASEACVGSKFWEQSVRLG SWDRGMQYSHSIITNLLYHVVGWTD WNLALNPEGGPNWVRNFVDSPIIVD ITKDTFYKQPMFYHLGH FSKFIPEGSQRVGLVASQKNDLDAV ALMHPDGSAVVVVLNRSSKDVPLTI KDPAVGFLETISPGYSIHTYL WRRQ
• Endotoxin: < 0.1 EU per μg of the protein
• Purity: >95%

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