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LIPA - lipase A, lysosomal acid type
- Synonym(s) : CESD, LAL, lysosomal acid lipase, sterol esterase, Wolman disease
- Previous symbols and names : lipase A, lysosomal acid, cholesterol esterase
- Type : gene with protein product
- Chromosomal location : 10q23.31
- OMIM: 613497
- HGNC: 6617
- UniProtKB: P38571
- Genatlas: LIPA
- GenCC: LIPA
- Ensembl: ENSG00000107798
- IUPHAR-DB: -
- Reactome: P38571
- LOVD: LIPA
Diseases list
- Disease-causing germline mutation(s) (loss of function) in Cholesteryl ester storage disease
ORPHA:75234 
- Disease-causing germline mutation(s) (loss of function) in Wolman disease
ORPHA:75233 - Candidate gene tested in NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
ORPHA:406
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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