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LIPA lipase A, lysosomal acid, cholesterol esterase

Also known as: LAL; CESD


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]

Associated conditions

See all available tests in GTR for this gene

Lysosomal acid lipase deficiency
MedGen: C0043208OMIM: 278000GeneReviews: Not available
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Genomic context

Chromosome: 10; NC_000010.11 (89213569..89252039, complement)
Total number of exons:


  • BioSystems
  • ClinVar
    Related medical variations
  • dbVar
    Link from Gene to dbVar
  • LIPA database
  • MedGen
    Related information in MedGen
  • OMIM
    Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
  • PubMed (OMIM)
    Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
  • RefSeq RNAs
    Link to Nucleotide RefSeq RNAs
  • RefSeqGene
    Link to Nucleotide RefSeqGenes
  • SNP: GeneView
    SNPs linked from GeneView

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