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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
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.
PTM
Glycosylation is not essential for catalytic activity.

Anti-LIPA antibodies

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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
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
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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