GBA (NM_001005742) Human Mass Spec Standard

CAT#: PH312242

GBA MS Standard C13 and N15-labeled recombinant protein (NP_001005742)

  View other "GBA" proteins (17)

USD 2,055.00

3 Weeks*

Size
    • 10 ug

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Specifications

Product Data
Tag C-Myc/DDK
Species Human
Expression Host HEK293
Expression cDNA Clone or AA Sequence RC212242
Predicted MW 59.72 kDa
Protein Sequence
Purity > 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration 50 ug/ml as determined by BCA
Labeling Method Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine
Buffer 100 mM glycine, 25 mM Tris-HCl, pH 7.3. Store at -80°C. Avoid repeated freeze-thaw cycles. Stable for 3 months from receipt of products under proper storage and handling conditions.
Reference Data
RefSeq NP_001005742
RefSeq Size 2413
RefSeq ORF 1608
Synonyms GBA1; GCB; GLUC
Locus ID 2629
UniProt ID P04062, B7Z6S9, A0A068F658
Cytogenetics 1q22
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. [provided by RefSeq, Jan 2010]'
Protein Families Druggable Genome
Protein Pathways Lysosome, Metabolic pathways, Other glycan degradation, Sphingolipid metabolism

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*Delivery time may vary from web posted schedule. Occasional delays may occur due to unforeseen complexities in the preparation of your product. International customers may expect an additional 1-2 weeks in shipping.