LIPA
This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq]
Full Name
LIPA
Function
Catalyzes the deacylation of triacylglyceryl and cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol.
Biological Process
Cell morphogenesisIEA:Ensembl
Cell population proliferationIEA:Ensembl
Homeostasis of number of cells within a tissueIEA:Ensembl
Inflammatory responseIEA:Ensembl
Lipid catabolic processIEA:UniProtKB-KW
Low-density lipoprotein particle clearanceTAS:Reactome
Lung developmentIEA:Ensembl
Sterol metabolic processManual Assertion Based On ExperimentIBA:GO_Central
Tissue remodelingIEA:Ensembl
Cell population proliferationIEA:Ensembl
Homeostasis of number of cells within a tissueIEA:Ensembl
Inflammatory responseIEA:Ensembl
Lipid catabolic processIEA:UniProtKB-KW
Low-density lipoprotein particle clearanceTAS:Reactome
Lung developmentIEA:Ensembl
Sterol metabolic processManual Assertion Based On ExperimentIBA:GO_Central
Tissue remodelingIEA:Ensembl
Cellular Location
Lysosome
Involvement in disease
Wolman disease (WOD):
A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year.
Cholesteryl ester storage disease (CESD):
A mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset.
A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year.
Cholesteryl ester storage disease (CESD):
A mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset.
PTM
Glycosylation is not essential for catalytic activity.
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Anti-LIPA antibodies
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Target: LIPA
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: 9G7F12,7G6D7
Application*: ELISA, WB
Target: LIPA
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: 1F9
Application*: WB, E
Target: LIPA
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBYJL-1771
Application*: E, P, WB
Target: LIPA
Host: Mouse
Antibody Isotype: IgG2b, κ
Specificity: Human
Clone: CBYJL-1770
Application*: WB
Target: LIPA
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBYJL-1769
Application*: E, WB
Target: LIPA
Sensitivity: 0.014 ng/mL
Detection Range: 0.03-9 ng/mL
Sample Type: Serum, Plasma, cell culture supernates
Specificity: Human
Assay Type: Sandwich
Reactivity: Human
Target: Lipa
Sensitivity: 0.0076 ng/mL
Detection Range: 0.015-3 ng/mL
Sample Type: Serum, Plasma, cell culture supernates
Specificity: Mouse
Assay Type: Sandwich
Reactivity: Mouse
Target: LIPA
Host: Mouse
Antibody Isotype: IgG
Specificity: Human
Clone: CBT826
Application*: WB, E
Target: LIPA
Host: Mouse
Antibody Isotype: IgG2a
Specificity: Human
Clone: CBT3381
Application*: WB
Target: LIPA
Specificity: Human
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(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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