Recombinant Human Alpha-Galactosidase A/GLA Protein (His Tag) (RPES3204)

SKU:
RPES3204
€318

Description

ELISA Kit Technical Manual

Recombinant Human Alpha-Galactosidase A/GLA Protein (His Tag)

Background:?-Galactosidase A is a homodimeric glycoprotein that belongs to the glycosyl hydrolase 27 family. It is a lysosomal enzyme and used as a long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease. ?-Galactosidase A can hydrolyze terminal ?-galactosyl moieties from glycolipids and glycoproteins and catalyze the hydrolysis of melibiose into galactose and glucose. Defects ?-Galactosidase A are the cause of Fabry disease (FD) which is a rare X-linked sphingolipidosis disease with glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease.
Name:Recombinant Human Alpha-Galactosidase A/GLA Protein (His Tag)
Size:10µg
Assay Genie SKU:RPES3204
Synonyms:Alpha-Galactosidase A; Alpha-D-Galactosidase A; Alpha-D-Galactoside Galactohydrolase; Melibiase; Agalsidase; GLA;GLAL
Species:Human
Expression host:Human Cells
Sequence:Leu32-Leu429
Accession:P06280
Mol Mass:46.4 kDa
AP Mol Mass:51 kDa
Tag:C-6His
Purity:> 95 % as determined by reducing SDS-PAGE.
Endotoxin:< 1.0 EU per µg as determined by the LAL method.
Storage:Store at < -20°C, stable for 6 months. Please minimize freeze-thaw cycles.
Shipping:This product is provided as liquid. It is shipped at frozen temperature with blue ice/gel packs.Upon receipt, store it immediately at<-20°C.
Formulation:Supplied as a 0.2 um filtered solution of 20mM TrisHCl, 150mM NaCl, pH 8.0.
Reconstitution:Please refer to the printed manual for detailed information.
UniProt Protein Function:GLA: Defects in GLA are the cause of Fabry disease (FD). FD is a rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaoslyceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities. Belongs to the glycosyl hydrolase 27 family.
UniProt Protein Details:

Protein type:Lipid Metabolism - sphingolipid; Lipid Metabolism - glycerolipid; EC 3.2.1.22; Glycan Metabolism - glycosphingolipid biosynthesis - globo series; Hydrolase; Carbohydrate Metabolism - galactose

Chromosomal Location of Human Ortholog: Xq22

Cellular Component: cytoplasm; extracellular region; Golgi apparatus; lysosomal lumen; lysosome

Molecular Function:alpha-galactosidase activity; catalytic activity; hydrolase activity; protein binding; protein homodimerization activity; receptor binding

Biological Process: glycosphingolipid catabolic process; glycosphingolipid metabolic process; glycosylceramide catabolic process; negative regulation of nitric oxide biosynthetic process; negative regulation of nitric-oxide synthase activity; oligosaccharide metabolic process

Disease: Fabry Disease

NCBI Summary:This gene encodes a homodimeric glycoprotein that hydrolyses the terminal alpha-galactosyl moieties from glycolipids and glycoproteins. This enzyme predominantly hydrolyzes ceramide trihexoside, and it can catalyze the hydrolysis of melibiose into galactose and glucose. A variety of mutations in this gene affect the synthesis, processing, and stability of this enzyme, which causes Fabry disease, a rare lysosomal storage disorder that results from a failure to catabolize alpha-D-galactosyl glycolipid moieties. [provided by RefSeq, Jul 2008]
UniProt Code:P06280
NCBI GenInfo Identifier:113499
NCBI Gene ID:2717
NCBI Accession:P06280.1
UniProt Secondary Accession:P06280,Q6LER7,
UniProt Related Accession:P06280
Molecular Weight:48,767 Da
NCBI Full Name:Alpha-galactosidase A
NCBI Synonym Full Names:galactosidase alpha
NCBI Official Symbol:GLA  
NCBI Official Synonym Symbols:GALA  
NCBI Protein Information:alpha-galactosidase A
UniProt Protein Name:Alpha-galactosidase A
UniProt Synonym Protein Names:Alpha-D-galactosidase A; Alpha-D-galactoside galactohydrolase; Melibiase; INN: Agalsidase
Protein Family:Glacontryphan
UniProt Gene Name:GLA  
UniProt Entry Name:AGAL_HUMAN
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Additional Information

Product type:
Recombinant Protein
Host species:
Human Cells
Reactivity:
Human
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