"GBA" Related Products

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Recombinant Human GBA therapeutic protein

Cat.No.: GBA-P047H
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
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. Our expression product is the active ingredient of Ceredase and Cerezyme.
Species: Human
Molecular Mass: 55.6 Kda
Protein length: 497 Aa
AA Sequence: ARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQP EQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDF QLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYF VKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQ RLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLG SWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGH FSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYL WRRQ
Endotoxin: < 1.0 EU per μg of the protein
Purity: >95%
Storage: Can be stored at +4 centigrade short term (1-2weeks). For long term storage, aliquot and store at -20 centigrade or -70 centigrade. Avoidrepeated freezing and thawing cycles.
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;

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