Lysosomal alpha-glucosidase (GAA) Recombinant Protein | GAA recombinant protein

Recombinant Human Lysosomal alpha-glucosidase (GAA) , partial

Cat. Num. AAA948153

• Gene Names: GAA; LYAG
• Purity: Greater or equal to 85% purity as determined by SDS-PAGE.
• Synonyms: Lysosomal alpha-glucosidase (GAA); Recombinant Human Lysosomal alpha-glucosidase (GAA); partial; GAA recombinant protein

• Host: E Coli or Yeast or Baculovirus or Mammalian Cell
• Purity/Purification: Greater or equal to 85% purity as determined by SDS-PAGE.
• Form/Format: Lyophilized or liquid (Format to be determined during the manufacturing process)
• Sequence Positions: 851-952. Fragment at the C-terminal.
• Sequence: GEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQLQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC
• Sequence Length: 952

• Species: Human
• Preparation and Storage: Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.

Related Product Information for GAA recombinant protein

This gene encodes acid alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. 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. Three transcript variants encoding the same protein have been found for this gene.

NCBI and Uniprot Product Information

• NCBI GI #: 119393891
• NCBI GeneID: 2548
• NCBI Accession #: NP_000143.2
• NCBI GenBank Nucleotide #: NM_000152.4
• UniProt Accession #: P10253; Q09GN4; Q14351; Q16302; Q8IWE7
• Molecular Weight: 105,324 Da
• NCBI Official Full Name: lysosomal alpha-glucosidase preproprotein
• NCBI Official Synonym Full Names: glucosidase alpha, acid
• NCBI Official Symbol: GAA
• NCBI Official Synonym Symbols: LYAG
• NCBI Protein Information: lysosomal alpha-glucosidase
• UniProt Protein Name: Lysosomal alpha-glucosidase
• Protein Family: Lysosomal alpha-glucosidase
• UniProt Gene Name: GAA

NCBI 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. [provided by RefSeq, Jan 2016]

Uniprot Description

Essential for the degradation of glycogen in lysosomes (PubMed:1856189, PubMed:7717400, PubMed:14695532, PubMed:18429042). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:29061980).