产品名称
LYAG Rabbit Polyclonal Antibody
别名
Lysosomal alpha-glucosidase (EC 3.2.1.20) (Acid maltase) (Aglucosidase alfa) [Cleaved into: 76 kDa lysosomal alpha-glucosidase; 70 kDa lysosomal alpha-glucosidase]
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.221% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/2548
Human Swissprot No.
P10253
Human Swissprot Link
https://www.uniprot.org/uniprotkb/P10253/entry
Mouse Gene Link
https://www.uniprot.org/uniprot/14387
Mouse Swissprot No.
P70699
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/P70699
Rat Gene Link
https://www.uniprot.org/uniprot/367562
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/Q6P7A9
免疫原
Synthesized peptide derived from human LYAG AA range: 432-482
特异性
This antibody detects endogenous levels of LYAG at Human/Mouse/Rat
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Duodenum,Liver,Placenta,Plasma,Testis,Urine,
细胞定位
Lysosome . Lysosome membrane .
功能
catalytic activity:Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.,caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,disease:Defects in GAA are the cause of glycogen storage disease type 2 (GSD2) [MIM:232300]; 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.,function:Essential for the degradation of glygogen to glucose in lysosomes.,online information:Alpha-glucosidase entry,online information:Information about alpha-glucosidase,polymorphism:There are three common alleles of GAA: GAA*1, GAA*2 and GAA*4. The sequence shown is that of allele GAA*1, which is the most common. Alleles GAA*2 and GAA*4 are much rarer.,PTM:Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor.,PTM:The different forms of acid glucosidase are obtained by proteolytic processing.,similarity:Belongs to the glycosyl hydrolase 31 family.,similarity:Contains 1 P-type (trefoil) domain.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
