Recombinant Human GAA Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: GAA-5243H
• Product Overview: GAA MS Standard C13 and N15-labeled recombinant protein (NP_001073271) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• 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: HEK293
• Species: Human
• Tag: Myc/DDK
• Molecular Mass: 105.3 kDa
• AA Sequence: MGVRHPPCSHRLLAVCALVSLATAA LLGHILLHDFLLVPRELSGSSPVLE ETHPAHQQGASRPGPRDAQAHPGRP RAVPTQCDVPPNSRFDCAPDKAITQ EQCEARGCCYIPAKQGLQGAQMGQP WCFFPPSYPSYKLENLSSSEMGYTA TLTRTTPTFFPKDILTLRLDVMMET ENRLHFTIKDPANRRYEVPLETPHV HSRAPSPLYSVEFSEEPFGVIVRRQ LDGRVLLNTTVAPLFFADQFLQLST SLPSQYITGLAEHLSPLMLSTSWTR ITLWNRDLAPTPGANLYGSHPFYLA LEDGGSAHGVFLLNSNAMDVVLQPS PALSWRSTGGILDVYIFLGPEPKSV VQQYLDVVGYPFMPPYWGLGFHLCR WGYSSTAITRQVVENMTRAHFPLDV QWNDLDYMDSRRDFTFNKDGFRDFP AMVQELHQGGRRYMMIVDPAISSSG PAGSYRPYDEGLRRGVFITNETGQP LIGKVWPGSTAFPDFTNPTALAWWE DMVAEFHDQVPFDGMWIDMNEPSNF IRGSEDGCPNNELENPPYVPGVVGG TLQAATICASSHQFLSTHYNLHNLY GLTEAIASHRALVKARGTRPFVISR STFAGHGRYAGHWTGDVWSSWEQLA SSVPEILQFNLLGVPLVGADVCGFL GNTSEELCVRWTQLGAFYPFMRNHN SLLSLPQEPYSFSEPAQQAMRKALT LRYALLPHLYTLFHQAHVAGETVAR PLFLEFPKDSSTWTVDHQLLWGEAL LITPVLQAGKAEVTGYFPLGTWYDL QTVPVEALGSLPPPPAAPREPAIHS EGQWVTLPAPLDTINVHLRAGYIIP LQGPGLTTTESRQQPMALAVALTKG GEARGELFWDDGESLEVLERGAYTQ VIFLARNNTIVNELVRVTSEGAGLQ LQKVTVLGVATAPQQVLSNGVPVSN FTYSPDTKVLDICVSLLMGEQFLVS WCTRTRPLEQKLISEEDLAANDILD YKDDDDKV
• Purity: > 80% as determined by SDS-PAGE and Coomassie blue staining
• Stability: Stable for 3 months from receipt of products under proper storage and handling conditions.
• Storage: Store at -80 centigrade. Avoid repeated freeze-thaw cycles.
• Concentration: 50 μg/mL as determined by BCA
• Storage Buffer: 100 mM glycine, 25 mM Tris-HCl, pH 7.3.

Gene Information

• Gene Name: GAA alpha glucosidase [ 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
• Gene ID: 2548
• mRNA Refseq: NM_001079803
• Protein Refseq: NP_001073271
• MIM: 606800
• UniProt ID: P10253

Reviews

08/11/2020

Additionally, cost-effectiveness, competitive pricing, and bulk purchase options can also be advantageous for researchers working within limited budgets.

09/05/2019

The ability to customize the GAA protein variants or modifications offered by the manufacturer is also advantageous, as it allows me to tailor the protein to my specific research objectives.

01/28/2018

I appreciate the manufacturer's commitment to maintaining exceptional protein quality standards, which ensures reliable and consistent results in my trials.

Q&As

How does GAA protein relate to other enzymes involved in glycogen metabolism?

GAA protein is one of several enzymes involved in glycogen metabolism, each playing a specific role in glycogen breakdown.

What are the treatment options for Pompe disease?

Enzyme replacement therapy (ERT) and gene therapy are two treatment options available for Pompe disease patients to replace or correct the deficient GAA protein.

Are there any other diseases or conditions related to GAA protein deficiency?

GAA protein deficiency is primarily associated with Pompe disease, but there are other glycogen storage diseases related to deficiencies of different enzymes.

How does ERT work in treating Pompe disease?

ERT involves the infusion of recombinant GAA protein to replace the missing or deficient enzyme in Pompe disease patients.

Can GAA protein therapy reverse the effects of Pompe disease?

While GAA protein therapy can improve the symptoms and quality of life for Pompe disease patients, it may not fully reverse the damage caused by the disease.