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

£577.00

SKU:: 363971
Purity:: Purified by immunoaffinity chromatography.
Storage Conditions:: -20°C
Supplier:: United States Biological
Host:: Rabbit
Immunogen:: Recombinant protein corresponding to Asn32-Ile358 of rat LIPA expressed in E. coli.
Format:: Supplied as a liquid in PBS, pH 7.4, 0.02% sodium azide, 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 ELISA, Western Blot, Immunohistochemistry, Immunocytochemistry. Other applications not tested. Recommended Dilution: ELISA: 1:100-5000 Western Blot: 1:50-400 Immunohistochemistry (frozen): 1:50-500 Immunohistochemistry (paraffin): 1:10-100 Immunocytochemistry: 1:50-500 Optimal dilutions to be determined by the researcher. AA Sequence: MGSSHHHHHH SSGLVPRGSH MASMTGGQQM GRGSEF-NMNVTEIIM HWGYPEHSVQ TGDGYILGVH RIPHGRKNQF DKGPKPVVYL QWRHGFLADS SNWVTNIDNN SLGFILADAG FDVWMGNSRG NTWSRKHKTL SVSQDEYWAF SFDEMAKYDL PASINYILNK TGQEQLYNVG HSQGCTIGFI AFSQMPELAK KVKMFFALAP VLSLNFASGP MVKLGRLPDL LLEDLFGQKQ FLPQSAMVKW LSTHICTHVI MKELCANIFF LICGFNEKNL NMSRVDVYTT HCPAGTSVQN MVHWTQVVKY HKLQAFDWGS SDKNYFHYNQ SYPPLYSIKD MQLPTALWSG GKDWLADTSD INILLTEI 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