Recombinant Human GAA Protein, GMP Grade
- Specification
- Related Products
| Cat#: |
GAA-090THP |
| Common Name: |
GAA |
| Product Name: |
Recombinant Human GAA Protein, GMP Grade |
| Product Overview: |
Recombinant Human GAA Protein without tag was expressed in CHO and was produced in an animal component free process under cGMP guidelines. |
| Description: |
This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. |
| Source: |
CHO |
| Species: |
Human |
| Bio-activity: |
5 mg/mL |
| Molecular Mass: |
105270.802 Da |
| AA Sequence: |
AHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGAQMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLHFTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLFFADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLALEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDGFRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKVWPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELENPPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISRSTFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVRWTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAGETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPVEALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQPMALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC |
| Endotoxin: |
<0.001 EU/μg by the LAL method |
| Purity: |
> 99 % by SDS-PAGE and HPLC analysis |
| Applications: |
For the treatment of Pompe disease (GAA deficiency) in infants and pediatric patients. |
| Usage: |
Pompe disease (GAA deficiency) |
| Storage: |
Lyophilized protein should be stored at < -20 centigrade, though stable at room temperature for 3 weeks. Reconstituted protein solution can be stored at 2-8 centigrade for 1 week. Aliquots of reconstituted samples are stable at < -20 centigrade for 3 months. |
| Gene Name: |
GAA glucosidase, alpha; acid [ Homo sapiens (human) ] |
| Official Symbol: |
GAA |
| Synonyms: |
GAA; glucosidase, alpha; acid; lysosomal alpha-glucosidase; glycogen storage disease type II; Pompe disease; acid maltase; aglucosidase alfa; LYAG; |
| GeneID: |
2548 |
| mRNA Refseq: |
NM_000152 |
| Protein Refseq: |
NP_000143 |
| MIM: |
606800 |
| UniProt ID: |
P10253 |
Not For Human Consumption!
