Recombinant Human GAA protein, GST-tagged

• Cat.No.: GAA-28090TH
• Product Overview: Recombinant Human GAA(1 a.a. - 952 a.a.) fused with GST tag at N-terminal was expressed in Wheat Germ.

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: Wheat Germ
• Species: Human
• Tag: GST
• Form: 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.
• Molecular Mass: 131.7 kDa
• AA Sequence: MGVRHPPCSHRLLAVCALVSLATAA LLGHILLHDFLLVPRELSGSSPVLE ETHPAHQQGASRPGPRDAQAHPGRP RAVPTQCDVPPNSRFDCAPDKAITQ EQCEARGCCYIPAKQGLQGAQMGQP WCFFPPSYPSYKLENLSSSEMGYTA TLTRTTPTFFPKDILTLRLDVMMET ENRLHFTIKDPANRRYEVPLETPRV HSRAPSPLYSVEFSEEPFGVIVHRQ LDGRVLLNTTVAPLFFADQFLQLST SLPSQYITGLAEHLSPLMLSTSWTR ITLWNRDLAPTPGANLYGSHPFYLA LEDGGSAHGVFLLNSNAMDVVLQPS PALSWRSTGGILDVYIFLGPEPKSV VQQYLDVVGYPFMPPYWGLGFHLCR WGYSSTAITRQVVENMTRAHFPLDV QWNDLDYMDSRRDFTFNKDGFRDFP AMVQELHQGGRRYMMIVDPAISSSG PAGSYRPYDEGLRRGVFITNETGQP LIGKVWPGSTAFPDFTNPTALAWWE DMVAEFHDQVPFDGMWIDMNEPSNF IRGSEDGCPNNELENPPYVPGVVGG TLQAATICASSHQFLSTHYNLHNLY GLTEAIASHRALVKARGTRPFVISR STFAGHGRYAGHWTGDVWSSWEQLA SSVPEILQFNLLGVPLVGADVCGFL GNTSEELCVRWTQLGAFYPFMRNHN SLLSLPQEPYSFSEPAQQAMRKALT LRYALLPHLYTLFHQAHVAGETVAR PLFLEFPKDSSTWTVDHQLLWGEAL LITPVLQAGKAEVTGYFPLGTWYDL QTVPIEALGSLPPPPAAPREPAIHS EGQWVTLPAPLDTINVHLRAGYIIP LQGPGLTTTESRQQPMALAVALTKG GEARGELFWDDGESLEVLERGAYTQ VIFLARNNTIVNELVRVTSEGAGLQ LQKVTVLGVATAPQQVLSNGVPVSN FTYSPDTKVLDICVSLLMGEQFLVS WC
• Applications: Enzyme-linked Immunoabsorbent Assay; Western Blot (Recombinant protein); Antibody Production; Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.

Gene Information

• Gene Name: GAA glucosidase, alpha; acid [ Homo sapiens ]
• 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_000152
• Protein Refseq: NP_000143
• MIM: 606800
• UniProt ID: P10253
• Chromosome Location: 17q25.2-q25.3
• Pathway: Galactose metabolism, organism-specific biosystem; Galactose metabolism, conserved biosystem; Lysosome, organism-specific biosystem; Lysosome, conserved biosystem; Metabolic pathways, organism-specific biosystem; Notch-mediated HES/HEY network, organism-specific biosystem; Starch and sucrose metabolism, organism-specific biosystem
• Function: alpha-glucosidase activity; carbohydrate binding; hydrolase activity, hydrolyzing O-glycosyl compounds; maltose alpha-glucosidase activity