LIPA, Official Symbol LIPAprovided by HGNC Official Full Name lipase A, lysosomal acid typeprovided by HGNC Primary source HGNC:HGNC:6617 See related Ensembl:ENSG00000107798 MIM:613497; AllianceGenome:HGNC:6617 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LAL; CESD Summary 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 have been found for this gene. [provided by RefSeq, Jan 2014] Expression Broad expression in spleen (RPKM 177.6), small intestine (RPKM 113.4) and 21 other tissues See more Orthologs mouse all