LIPA (Lipase A, Lysosomal Acid, LAL, CESD, Lipase A,Lysosomal Acid, Cholesterol Esterase (Wolman Disease), Acid Cholesteryl Ester Hydrolase, Lysosomal acid lipase/cholesteryl ester hydrolase)

Size

£537.00

SKU:: 363972
Application:: WB
Purity:: Purified by Protein A and peptide affinity chromatography.
Storage Conditions:: -20°C
Supplier:: United States Biological
Host:: Rabbit
Immunogen:: Recombinant protein corresponding to Asn32-Val201 of mouse LIPA expressed in E. coli.
Format:: Supplied as a liquid in 0.01M PBS, pH 7.4, 0.05% Proclin-300, 50% glycerol.
Extra Details:: Lysosomal acid lipase (LIPA, or LAL), otherwise known as acid cholesteryl ester hydrolase, is coded for by a gene (LIPA) on chromosome 10. Two major disorders, the severe infantile-onset Wolman disease and the milder late-onset cholesteryl ester storage disease (CESD), are seemingly caused by mutations in different parts of the LIPA gene. Aslanidis et al. (1996) provided evidence that a strikingly more severe course of Wolman disease is caused by genetic defects of LAL that leave no residual enzyme activity. In a CESD patient, a G-to-A transition at position -1 of the exon 8 splice donor site resulted in skipping of exon 8 in 97% of the mRNA originating from this allele, while 3% was spliced correctly, resulting in full-length LAL enzyme. Applications: Suitable for use in Western Blot. Other applications not tested. Recommended Dilution: Optimal dilutions to be determined by the researcher. AA Sequence: MGSSHHHHHH SSGLVPRGSH MASMTGGQQM GRGSEF- NMNVTEIIM RWGYPGEEHS VLTGDGYILS IHRIPRGRKN HFGKGPRPVV YLQHGLLADS SNWVTNIDNS SLGFLLADAG FDVWMGNSRG NTWSLKHKTL SVSQDEFWAF SFDEMAKYDL PASINYILNK TGQEQIYYVG HSQGCTIGFI AFSQMPELAK KIKMFLVLAP V Storage and Stability: May be stored at 4°C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20°C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Shipping Conditions:: Blue Ice