Lipase a, lysosomal acid type explained

Lipase A, lysosomal acid type is a protein that in humans is encoded by the LIPA gene.^[1]

Function

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].

Further reading

• Riemenschneider M, Mahmoodzadeh S, Eisele T, Klopp N, Schwarz S, Wagenpfeil S, Diehl J, Mueller U, Foerstl H, Illig T, Kurz A . Association analysis of genes involved in cholesterol metabolism located within the linkage region on chromosome 10 and Alzheimer's disease . Neurobiol. Aging . 25 . 10 . 1305–8 . 2004 . 15465627 . 10.1016/j.neurobiolaging.2004.01.001 . 43039824 .
• Papassotiropoulos A, Wollmer MA, Tsolaki M, Brunner F, Molyva D, Lütjohann D, Nitsch RM, Hock C . A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease . J Clin Psychiatry . 66 . 7 . 940–7 . July 2005 . 16013913 . 10.4088/JCP.v66n0720.
• Zhao B, Fisher BJ, St Clair RW, Rudel LL, Ghosh S . Redistribution of macrophage cholesteryl ester hydrolase from cytoplasm to lipid droplets upon lipid loading . J. Lipid Res. . 46 . 10 . 2114–21 . October 2005 . 16024911 . 10.1194/jlr.M500207-JLR200 . free .
• Zhao B, Natarajan R, Ghosh S . Human liver cholesteryl ester hydrolase: cloning, molecular characterization, and role in cellular cholesterol homeostasis . Physiol. Genomics . 23 . 3 . 304–310 . November 2005 . 16131527 . 10.1152/physiolgenomics.00187.2005 . 10.1.1.861.6660 .
• Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A . A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease . Am. J. Hum. Genet. . 78 . 1 . 78–88 . January 2006 . 16385451 . 1380225 . 10.1086/498851 .
• von Trotha KT, Heun R, Schmitz S, Lütjohann D, Maier W, Kölsch H . Influence of lysosomal acid lipase polymorphisms on chromosome 10 on the risk of Alzheimer's disease and cholesterol metabolism . Neurosci. Lett. . 402 . 3 . 262–6 . July 2006 . 16730122 . 10.1016/j.neulet.2006.04.009 . 8354106 .
• Wang F, Wang W, Wähälä K, Adlercreutz H, Ikonen E, Tikkanen MJ . Role of lysosomal acid lipase in the intracellular metabolism of LDL-transported dehydroepiandrosterone-fatty acyl esters . Am. J. Physiol. Endocrinol. Metab. . 295 . 6 . E1455–61 . December 2008 . 18796546 . 10.1152/ajpendo.90527.2008 . 18294238 . https://web.archive.org/web/20190228142839/http://pdfs.semanticscholar.org/8d57/fa89d7a5030f50cf8cb5e5b71033998c38a7.pdf . dead . 2019-02-28 .
• Ruaño G, Bernene J, Windemuth A, Bower B, Wencker D, Seip RL, Kocherla M, Holford TR, Petit WA, Hanks S . Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone . Clin. Chim. Acta . 400 . 1–2 . 48–55 . February 2009 . 18996102 . 10.1016/j.cca.2008.10.009 .
• Pisciotta L, Fresa R, Bellocchio A, Pino E, Guido V, Cantafora A, Di Rocco M, Calandra S, Bertolini S . Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene . Mol. Genet. Metab. . 97 . 2 . 143–8 . June 2009 . 19307143 . 10.1016/j.ymgme.2009.02.007 .

Notes and References

1. Web site: Entrez Gene: Lipase A, lysosomal acid type. 2018-08-22.