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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

LIPAD

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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