The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
补充说明Protein concentration is above or equal to 0.05 mg/ml. This protein is best used within three months from the date of receipt.
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Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00 Constituents: 0.3% Glutathione, 0.79% Tris HCl
1,4 alpha glucan branching enzyme
amylo (1,4 to 1,6) transglucosidase
amylo (1,4 to 1,6) transglycosylase
gGlucan (1,4 alpha ), branching enzyme 1
Glucan (1,4 alpha) branching enzyme
Glycogen branching enzyme
Glycogen storage disease type IV
功能Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells.
组织特异性Highest levels found in liver and muscle.
通路Glycan biosynthesis; glycogen biosynthesis.
疾病相关Defects in GBE1 are the cause of glycogen storage disease type 4 (GSD4) [MIM:232500]; also known as Andersen disease. GSD4 is a metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of GSD4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity. Note=Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders. Defects in GBE1 are the cause of adult polyglucosan body disease (APBD) [MIM:263570]. APBD is a late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBD is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.