GBA (NM_001005750) Human Recombinant Protein

CAT#: TP312293

Purified recombinant protein of Homo sapiens glucosidase, beta; acid (includes glucosylceramidase) (GBA), transcript variant 5

Product Images

Coomassie blue staining of purified GBA protein (Cat# TP312293). The protein was produced from HEK293T cells transfected with GBA cDNA clone (Cat# RC212293) using MegaTran 2.0 (Cat# TT210002).

Specifications

Product Data

• Species: Human
• Expression Host: HEK293T
• Expression cDNA Clone or AA Sequence:
  Protein Sequence

  Recombinant protein was produced with TrueORF clone, RC212293. Click on the TrueORF clone link to view cDNA and protein sequences.
• Tag: C-Myc/DDK
• Predicted MW: 55.5 kDa
• Concentration: >50 ug/mL as determined by microplate BCA method
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Buffer: 25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol
• Preparation: Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps.
• Storage: Store at -80°C.
• Stability: Stable for 12 months from the date of receipt of the product under proper storage and handling conditions. Avoid repeated freeze-thaw cycles.

Reference Data

• RefSeq: NP_001005750
• Locus ID: 2629
• Cytogenetics: 1q22
• Refseq Size: 2568
• Refseq ORF: 1611
• Synonyms: acid (includes glucosylceramidase); D-glucosyl-N-acylsphingosine glucohydrolase; GBA1; GCB; GLUC; glucocerebrosidase; glucocerebrosidase (alt.); glucosidase, beta; lysosomal glucocerebrosidase; OTTHUMP00000033992; OTTHUMP00000033993
• 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