LIPA
MIM.278000 10q24-q25
Lysosomal acid lipase (LIPA, or LAL), otherwise known as acid cholesteryl ester hydrolase or lysosomal lipase, 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.
Pathology
germline mutations in Wolman disease
Pharmacology
Chlorpromazine is an inhibitor of lysosomal lipase.
See also
Lysosomal lipases
- Lysosomal lipase is a form of lipase which functions intracellularly, in the lysosomes.