抗体

GAA抗体(N末端)

MBS9205455

0.08毫升

155美元

多克隆

兔

未共轭

免疫印迹, 酶联免疫吸附测定, 免疫组化, 酶免疫法

抗体

GAA抗体(N末端)

GAA

Lysosomal alpha-glucosidase; Acid maltase; Aglucosidase alfa; 76 kDa lysosomal alpha-glucosidase; 70 kDa lysosomal alpha-glucosidase; GAA

lysosomal alpha-glucosidase preproprotein; Lysosomal alpha-glucosidase; lysosomal alpha-glucosidase; glucosidase, alpha; acid; Acid maltase; Aglucosidase alfa

GAA

GAA;GAA;LYAG

LYAG_HUMAN

多克隆

兔IgE

兔

人类

174-203

952

This GAA antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 174-203 amino acids from the N-terminal region of human GAA.

肽亲和纯化兔多克隆抗体(多克隆抗体)

Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.

Vial Concentration: 0.46

Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles.

免疫印迹(免疫印迹), 酶联免疫吸附测定(EIA), 免疫组化(免疫组化)

IHC~~1:25。 WB~~1:1000。 免疫组化-P~~1:10~50

Antigen Type: Synthetic Peptide. Cellular Location: Lysosome. Lysosome membrane. Function: Essential for the degradation of glygogen to glucose in lysosomes. Gene ID: 2548

Antigen Source: HUMAN

代谢;信号转导

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.

Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010). Labrousse, P., et al. Mol. Genet. Metab. 99(4):379-383(2010). Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009). Aoyama, Y., et al. J. Hum. Genet. 54(11):681-686(2009). Maimaiti, M., et al. J. Hum. Genet. 54(8):493-496(2009)

119393891

NP_000143.2

NM_000152.3

P10253

RNA聚合酶通路(2548);RNA聚合酶通路(2548);RNA聚合酶通路(2548);RNA聚合酶通路(2548);RNA聚合酶通路(2548);RNA聚合酶通路(2548);RNA聚合酶通路(2548);RNA聚合酶通路(2548);RNA聚合酶通路(2548);RNA聚合酶通路(2548)

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]

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: EC 3.2.1.20; Contractile; Carbohydrate Metabolism - starch and sucrose; Carbohydrate Metabolism - galactose; Hydrolase. Chromosomal Location of Human Ortholog: 17q25.2-q25.3. Cellular Component: membrane; lysosome; lysosomal membrane. Molecular Function: alpha-glucosidase activity; maltase activity; carbohydrate binding. Biological Process: heart morphogenesis; maltose metabolic process; tissue development; glycogen catabolic process; vacuolar sequestering; glucose metabolic process; sucrose metabolic process; locomotory behavior; muscle maintenance; neuromuscular process controlling posture; lysosome organization and biogenesis; diaphragm contraction; neuromuscular process controlling balance; regulation of the force of heart contraction; cardiac muscle contraction. Disease: Glycogen Storage Disease Ii

0.08毫升

155美元

0.4毫升

340