Entity Details

Primary name LIPA
Entity type gene
Source Source Link

Details

PrimaryID3988
RefseqGeneNG_008194
SymbolLIPA
Namelipase A, lysosomal acid type
Chromosome10
Location10q23.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1993-03-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLICH_HUMAN

GO terms

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GOName
GO:0000902 cell morphogenesis
GO:0001650 fibrillar center
GO:0004771 sterol esterase activity
GO:0005654 nucleoplasm
GO:0005764 lysosome
GO:0005829 cytosol
GO:0006954 inflammatory response
GO:0008283 cell population proliferation
GO:0016042 lipid catabolic process
GO:0016125 sterol metabolic process
GO:0016298 lipase activity
GO:0030324 lung development
GO:0034383 low-density lipoprotein particle clearance
GO:0043202 lysosomal lumen
GO:0043231 intracellular membrane-bounded organelle
GO:0048771 tissue remodeling
GO:0048873 homeostasis of number of cells within a tissue

Diseases

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Disease IDSourceNameDescription
278000 OMIMWolman 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. The disease is caused by variants affecting the gene represented in this entry.
278000 OMIMWolman 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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
LIPANINBioGRID28718761 details
LIPAELAVL1BioGRID19322201 details