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: 1:100-5000Western Blot: 1:50-400 Immunohistochemistry (frozen): 1:50-500 Immunohistochemistry (paraffin): 1:10-100Immunocytochemistry: 1:50-500 Optimal dilutions to be determined by the researcher.
