GBA (NM_000157) Human Untagged Clone
Specifications
| Product Data | |
| Type | Human Untagged Clone |
|---|---|
| Target Symbol | GBA |
| Synonyms | GBA1; GCB; GLUC |
| Vector | pCMV6-XL5 |
| E. coli Selection | Ampicillin (100 ug/mL) |
| Mammalian Cell Selection | None |
| Sequence Data | |
| Restriction Sites | NotI-NotI | |
| ACCN | NM_000157 |
| Insert Size | 1611 bp |
| OTI Disclaimer | Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP). |
| Components | The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water). |
| Reconstitution Method | 1. Centrifuge at 5,000xg for 5min. 2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA. 3. Close the tube and incubate for 10 minutes at room temperature. 4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom. 5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C. |
| Note | Plasmids are not sterile. For experiments where strict sterility is required, filtration with 0.22um filter is required. |
| Shipping | Ambient |
| Reference Data | |
| RefSeq | NM_000157.2, NP_000148.2 |
| RefSeq Size | 2324 bp |
| RefSeq ORF | 1611 bp |
| Locus ID | 2629 |
| UniProt ID | P04062 |
| Cytogenetics | 1q22 |
| Domains | Glyco_hydro_30 |
| Protein Families | Druggable Genome |
| Protein Pathways | Lysosome, Metabolic pathways, Other glycan degradation, Sphingolipid metabolism |
| 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 Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2 and 3 encode the same isoform 1. |
Reviews
Documents
| Product Manuals |
| FAQs |
| SDS |
Resources
"NM_000157" in other vectors (6)
| SKU | Description | Size | Price | |
|---|---|---|---|---|
| RC216061 | GBA (Myc-DDK-tagged)-Human glucosidase, beta, acid (GBA), transcript variant 1 | 10 ug |
$499.00
|
|
| RC216061L1 | Lenti ORF clone of Human glucosidase, beta, acid (GBA), transcript variant 1, Myc-DDK-tagged | 10 ug |
$799.00
|
|
| RC216061L2 | Lenti ORF clone of Human glucosidase, beta, acid (GBA), transcript variant 1, mGFP tagged | 10 ug |
$799.00
|
|
| RC216061L3 | Lenti ORF clone of Human glucosidase, beta, acid (GBA), transcript variant 1, Myc-DDK-tagged | 10 ug |
$799.00
|
|
| RC216061L4 | Lenti ORF clone of Human glucosidase, beta, acid (GBA), transcript variant 1, mGFP tagged | 10 ug |
$799.00
|
|
| RG216061 | GBA (tGFP-tagged) - Human glucosidase, beta, acid (GBA), transcript variant 1 | 10 ug |
$489.00
$699.00
|
|
Citations
Kim, Choi, Kim et al
Orphanet J Rare Dis (2020) 15 (1), 318 DOI: 10.1186/s13023-020-01597-0
Kim, Choi, Kim et al
Research Square (2020)
Kim, Yum, Heo et al
J. Med. Genet. (2019) 57 (2), 124-131 DOI: 10.1136/jmedgenet-2019-106132
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