α葡萄糖苷酶/溶酶体α-葡糖苷酶抗体
规格：1mg/1ml
英文名： GAA
别名： 70 kDa lysosomal alpha-glucosidase; Acid alpha glucosidase; Acid maltase; Aglucosidase alfa; Alpha glucosidase; GAA; Glucosidase alpha acid (Pompe disease glycogen storage disease type II); Glucosidas
分子量： 83/92/98kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human GAA/Gluc
交叉反应：Human, Mouse, Rat, Dog, Pig, Horse, Sheep,
细胞定位：细胞浆 细胞膜
α葡萄糖苷酶/溶酶体α-葡糖苷酶抗体产品介绍：background: 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. [provided by RefSeq, Jul 2008]. Function: Essential for the degradation of glygogen to glucose in lysosomes. Subcellular Location: Lysosome. Lysosome membrane. Post-translational modifications:α葡萄糖苷酶/溶酶体α-葡糖苷酶抗体 The different forms of acid glucosidase are obtained by proteolytic processing. Phosphorylation of mannose residues ensures efficient transport of the enzyme to the lysosomes via the mannose 6-phosphate receptor. 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 α葡萄糖苷酶/溶酶体α-葡糖苷酶抗体is less than two years. The juvenile and ***** forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the ***** form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy. Similarity: Belongs to the glycosyl hydrolase 31 family. Contains 1 P-type (trefoil) domain. Database links: Entrez Gene: 2548 Human Entrez Gene: 14387 Mouse Entrez Gene: 367562 Rat Omim: 606800 Human SwissProt: P10253 Human SwissProt: P70699 Mouse SwissProt: Q6P7A9 Rat Unigene: 1437 Human Unigene: 4793 Mouse Unigene: 162368 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
α葡萄糖苷酶/溶酶体α-葡糖苷酶抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：肿瘤 细胞生物 信号转导 新陈代谢 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid