NP_000143.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
105,324 Da
NCBI Official Full Name
lysosomal alpha-glucosidase preproprotein
NCBI Official Synonym Full Names
glucosidase, alpha; acid
NCBI Official Synonym Symbols
NCBI Protein Information
lysosomal alpha-glucosidase
UniProt Protein Name
Lysosomal alpha-glucosidase
UniProt Synonym Protein Names
Acid maltase; Aglucosidase alfa
UniProt Entry Name
LYAG_HUMAN
NCBI Summary for GAA
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 Comments for GAA
GAA: Essential for the degradation of glygogen to glucose in lysosomes. Defects in GAA are the cause of glycogen storage disease type 2 (GSD2); also called acid alpha-glucosidase (GAA) deficiency or acid maltase deficiency (AMD). GSD2 is a metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy. Belongs to the glycosyl hydrolase 31 family.
Protein type: Hydrolase; EC 3.2.1.20; Carbohydrate Metabolism - galactose; Carbohydrate Metabolism - starch and sucrose; Contractile
Chromosomal Location of Human Ortholog: 17q25.2-q25.3
Cellular Component: lysosomal lumen; lysosomal membrane; lysosome; membrane
Molecular Function: alpha-glucosidase activity; carbohydrate binding; maltase activity
Biological Process: carbohydrate metabolic process; cardiac muscle contraction; diaphragm contraction; glucose metabolic process; glycogen catabolic process; heart morphogenesis; locomotory behavior; lysosome organization and biogenesis; maltose metabolic process; muscle maintenance; neuromuscular process controlling balance; neuromuscular process controlling posture; regulation of the force of heart contraction; sucrose metabolic process; tissue development; vacuolar sequestering
Disease: Glycogen Storage Disease Ii
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-GAA antibody
Pathways associated with anti-GAA antibody
Diseases associated with anti-GAA antibody
Organs/Tissues associated with anti-GAA antibody
|