Recombinant Human GLA Protein (His Tag)

Specifications

Catalog number

PDMH100451-01

Size / count

20 µg

Dry ice

No

Hazardous

No

Discontinued

No

Background

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.

Abbreviation

GLA

Synonyms

GLA; GALA; Alpha-D-Galactoside; Galactohydrolase; galactosidase alpha; GLAL; Melibiase; Agalsidase; Alpha-galactosidase A; Alpha-D-galactosidase A; Alpha-D-galactoside galactohydrolase; Galactosylgalactosylglucosylceramidase GLA

UniProt

P06280

Accession Number

P06280

Expression System

Mammalian

Tag

C-His

Sequence

Met1-Leu429

Field of Research

Metabolism; Cell Biology

Endotoxin

< 1.0 EU/mg of the protein as determined by the LAL method

Purity

> 95% as determined by reducing SDS-PAGE.

Bioactivity

Not validated for activity

Reconstitution

It is recommended that sterile water be added to the vial to prepare a stock solution of 0.5 mg/mL. Concentration is measured by UV-Vis

Shipping Conditions

This product is provided as lyophilized powder which is shipped with ice packs.

Storage Conditions

Generally, 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.

Calculated Molecular Weight

47.2 kDa

Observed Molecular Weight

42-60 kDa

Formulation

Lyophilized from a 0.2 μm filtered solution in PBS with 5% Trehalose and 5% Mannitol.

Species

Human