Hexosaminidase A/HEXA (clone AT20F1), anti-human

Description
HEXA (Hexosaminidase A), also designated beta-Hexosaminidase A, is responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. A mutation in the a subunit of hexosaminidase is the cause of Tay-Sachs disease (TSD), also known as GM2-gangliosidosis type I. TSD is a fatal autosomal recessive lysosomal storage disease of the central nervous system (CNS) caused by insufficient activity of the HEXA enzyme that results in a failure to process GM2 gangliosides. The accumulation of GM2 ganglioside in the absence of HEXA activity causes progressive destruction of the CNS.Alternative Names
beta-hexosaminidase subunit alpha, TSD, hexosaminidase AConcentration
1mg/ml (determined by BCA assay)Concentration
Liquid in. Phosphate-Buffered Saline (pH 7.4) with 0.02% Sodium Azide, 10% glycerolStorage: Can be stored at +2C to +8C for 1 week. For long term storage, aliquot and store at -20C to -80C. Avoid repeated freezing and thawing cycles.