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FLASH GENE
Symbol LIPA contributors: mct - updated : 27-12-2018
HGNC name lipase A, lysosomal acid, cholesterol esterase
HGNC id 6617
ASSOCIATED DISORDERS
corresponding disease(s) LIPAD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in non-alcoholic steatohepatitis, which is the major cause of cryptogenic cirrhosis
Susceptibility
  • to abdominal aortic aneurysm (AAA)
  • to coronary artery disease (CAD)
  • to metabolic syndrome
  • Variant & Polymorphism SNP
  • rs1051338 and rs2246942 increased the risk of abdominal aortic aneurysm (AAA)
  • rs1412444 and rs2246833 of the LIPA gene are shared susceptibility polymorphisms for CAD
  • LIPA rs1412444 is associated with metabolic syndrome
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of sterol O-acyltransferase 2 (Soat2) function in mice deficient in lysosomal acid lipase (Lipa) dramatically reduces esterified cholesterol sequestration in the small intestine and liver