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lysosomal acid lipase; cholesterol ester hydrolase
Pathology:
- deficiency results in lysosomal acid lipase deficiency (cholesterol ester storage disease)
Pharmacology:
- recombinant lysosomal acid lipase sebelipase alfa (Kanuma) FDA approved to treat lysosomal acid lipase deficiency [1]
Laboratory:
- lysosomal acid lipase in fibroblasts
- lysosomal acid lipase in leukocytes
Specific
lysosomal acid lipase-A (acid cholesterol ester hydrolase, LIPA)
lysosomal acid lipase-B (cholesterol ester hydrolase-B)
lysosomal acid lipase-C (cholesterol ester hydrolase-C)
General
lipase
lysosomal hydrolase
Properties
COMPARTMENT: lysosome
MOTIF: active site
glycosylation site
Database Correlations
OMIM 278000
References
- OMIM :accession 278000
- Medscape Oncology. Dec 8, 2015
FDA OKs First Drug (Kanuma) for Rare Enzyme Disease
http://www.medscape.com/viewarticle/855617