GBA (Human) Recombinant Protein (Q02)
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More Files
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Specifications
Product Description
Human GBA partial ORF ( NP_000148.2, 431 a.a. - 536 a.a.) recombinant protein with GST-tag at N-terminal.
Sequence
NWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
Host
Wheat Germ (in vitro)
Theoretical MW (kDa)
37.4
Interspecies Antigen Sequence
Mouse (86); Rat (91)
Preparation Method
Purification
Glutathione Sepharose 4 Fast Flow
Quality Control Testing
12.5% SDS-PAGE Stained with Coomassie Blue.
Storage Buffer
50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
Storage Instruction
Store at -80°C. Aliquot to avoid repeated freezing and thawing.
Note
Best use within three months from the date of receipt of this protein.
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Applications
Enzyme-linked Immunoabsorbent Assay
Western Blot (Recombinant protein)
Antibody Production
Protein Array
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Gene Info — GBA
Entrez GeneID
2629GeneBank Accession#
NM_000157Protein Accession#
NP_000148.2Gene Name
GBA
Gene Alias
GBA1, GCB, GLUC
Gene Description
glucosidase, beta; acid (includes glucosylceramidase)
Gene Ontology
HyperlinkGene Summary
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 encoding the same protein. [provided by RefSeq
Other Designations
D-glucosyl-N-acylsphingosine glucohydrolase|OTTHUMP00000033992|OTTHUMP00000033993|glucocerebrosidase|glucocerebrosidase (alt.)|lysosomal glucocerebrosidase
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Interactomes
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Pathways
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Diseases
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