General 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 encoding the same protein. (provided by RefSeq)
Immunogen
GBA (NP_000148, 146 a.a. ~ 235 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Sequence
SYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGS
Physical form
Solution in phosphate buffered saline, pH 7.4
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
| biological source | mouse |
| Quality Segment | 100 |
| conjugate | unconjugated |
| antibody form | purified immunoglobulin |
| antibody product type | primary antibodies |
| clone | 2H4, monoclonal |
| form | buffered aqueous solution |
| mol wt | antigen ~36.01 kDa |
| species reactivity | human |
| technique(s) | capture ELISA: suitable,indirect ELISA: suitable,western blot: 1-5 μg/mL |
| isotype | IgG1κ |
| NCBI accession no. | NM_000157 |
| UniProt accession no. | P04062 |
| shipped in | dry ice |
| storage temp. | −20°C |
| target post-translational modification | unmodified |
| Gene Information | human ... GBA(2629) |
