Alpha-galactosidase A, also known as Alpha-D-galactoside galactohydrolase, Alpha-D-galactosidase A, Melibiase and GLA, is a member of the glycosyl hydrolase 27 family. GLA is used as a long-term enzyme replacement therapy in patients with a confirmed diagnosis of Fabry disease. Defects in GLA are the cause of Fabry disease (FD) which 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. Deficiency of GLA leads to the accumulation of glycosphingolipids in the vasculature leading to multiorgan pathology. In addition to well-described microvascular disease, deficiency of GLA is also characterized by premature macrovascular events such as stroke and possibly myocardial infarction.
Product Name:
Mouse alpha-Galactosidase A Recombinant Protein (RPES3458)
Product Code:
RPES3458
Size:
20µg
Species:
Mouse
Expressed Host:
HEK293 Cells
Synonyms:
Ags
Accession:
Q8BGZ6
Sequence:
Met1-Arg421
Fusion tag:
C-His
Activity:
Measured by its ability to hydrolyze 4-methylumbelliferyl-?-D-galactopyranoside.The specific activity is > 400 pmoles/min/µg.
Endotoxin:
<1.0 EU per µg of the protein as determined by the LAL method.
Protein Construction:
A DNA sequence encoding the mouse Gla (Q8BGZ6) (Met1-Arg421) was expressed with a C-terminal polyhistidine tag.
Purity:
> 95 % as determined by SDS-PAGE
Mol Mass:
45.6 kDa
AP Mol Mass:
46-52 kDa
Formulation:
Lyophilized from sterile PBS, pH 7.4
Shipping:
This product is provided as lyophilized powder which is shipped with ice packs.
Stability and Storage:
Lyophilized proteins are stable for up to 12 months when stored at -20 to -80°C. Reconstituted protein solution can be stored at 4-8°C for 2-7 days. Aliquots of reconstituted samples are stable at < -20°C for 3 months.
