Lipase A, lysosomal acid type is a protein that in humans is encoded by the LIPA gene. [5]
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].
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000107798 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024781 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Lipase A, lysosomal acid type". Retrieved 2018-08-22.
Further reading
- Riemenschneider M, Mahmoodzadeh S, Eisele T, Klopp N, Schwarz S, Wagenpfeil S, Diehl J, Mueller U, Foerstl H, Illig T, Kurz A (2004). "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. doi: 10.1016/j.neurobiolaging.2004.01.001. PMID 15465627. S2CID 43039824.
- Papassotiropoulos A, Wollmer MA, Tsolaki M, Brunner F, Molyva D, Lütjohann D, Nitsch RM, Hock C (July 2005). "A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease". J Clin Psychiatry. 66 (7): 940–7. doi: 10.4088/JCP.v66n0720. PMID 16013913.
- Zhao B, Fisher BJ, St Clair RW, Rudel LL, Ghosh S (October 2005). "Redistribution of macrophage cholesteryl ester hydrolase from cytoplasm to lipid droplets upon lipid loading". J. Lipid Res. 46 (10): 2114–21. doi: 10.1194/jlr.M500207-JLR200. PMID 16024911.
- Zhao B, Natarajan R, Ghosh S (November 2005). "Human liver cholesteryl ester hydrolase: cloning, molecular characterization, and role in cellular cholesterol homeostasis". Physiol. Genomics. 23 (3): 304–310. CiteSeerX 10.1.1.861.6660. doi: 10.1152/physiolgenomics.00187.2005. PMID 16131527.
- 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 (January 2006). "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. doi: 10.1086/498851. PMC 1380225. PMID 16385451.
- von Trotha KT, Heun R, Schmitz S, Lütjohann D, Maier W, Kölsch H (July 2006). "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. doi: 10.1016/j.neulet.2006.04.009. PMID 16730122. S2CID 8354106.
- Wang F, Wang W, Wähälä K, Adlercreutz H, Ikonen E, Tikkanen MJ (December 2008). "Role of lysosomal acid lipase in the intracellular metabolism of LDL-transported dehydroepiandrosterone-fatty acyl esters" (PDF). Am. J. Physiol. Endocrinol. Metab. 295 (6): E1455–61. doi: 10.1152/ajpendo.90527.2008. PMID 18796546. S2CID 18294238. Archived from the original (PDF) on 2019-02-28.
- Ruaño G, Bernene J, Windemuth A, Bower B, Wencker D, Seip RL, Kocherla M, Holford TR, Petit WA, Hanks S (February 2009). "Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone". Clin. Chim. Acta. 400 (1–2): 48–55. doi: 10.1016/j.cca.2008.10.009. PMID 18996102.
- Pisciotta L, Fresa R, Bellocchio A, Pino E, Guido V, Cantafora A, Di Rocco M, Calandra S, Bertolini S (June 2009). "Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene". Mol. Genet. Metab. 97 (2): 143–8. doi: 10.1016/j.ymgme.2009.02.007. PMID 19307143.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
 | This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it. |
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| Aliases | LIPA, CESD, LAL, lipase A, lysosomal acid type | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 613497; MGI: 96789; HomoloGene: 37277; GeneCards: LIPA; OMA: LIPA - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Lipase A, lysosomal acid type is a protein that in humans is encoded by the LIPA gene. [5]
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].
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000107798 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024781 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Lipase A, lysosomal acid type". Retrieved 2018-08-22.
Further reading
- Riemenschneider M, Mahmoodzadeh S, Eisele T, Klopp N, Schwarz S, Wagenpfeil S, Diehl J, Mueller U, Foerstl H, Illig T, Kurz A (2004). "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. doi: 10.1016/j.neurobiolaging.2004.01.001. PMID 15465627. S2CID 43039824.
- Papassotiropoulos A, Wollmer MA, Tsolaki M, Brunner F, Molyva D, Lütjohann D, Nitsch RM, Hock C (July 2005). "A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease". J Clin Psychiatry. 66 (7): 940–7. doi: 10.4088/JCP.v66n0720. PMID 16013913.
- Zhao B, Fisher BJ, St Clair RW, Rudel LL, Ghosh S (October 2005). "Redistribution of macrophage cholesteryl ester hydrolase from cytoplasm to lipid droplets upon lipid loading". J. Lipid Res. 46 (10): 2114–21. doi: 10.1194/jlr.M500207-JLR200. PMID 16024911.
- Zhao B, Natarajan R, Ghosh S (November 2005). "Human liver cholesteryl ester hydrolase: cloning, molecular characterization, and role in cellular cholesterol homeostasis". Physiol. Genomics. 23 (3): 304–310. CiteSeerX 10.1.1.861.6660. doi: 10.1152/physiolgenomics.00187.2005. PMID 16131527.
- 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 (January 2006). "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. doi: 10.1086/498851. PMC 1380225. PMID 16385451.
- von Trotha KT, Heun R, Schmitz S, Lütjohann D, Maier W, Kölsch H (July 2006). "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. doi: 10.1016/j.neulet.2006.04.009. PMID 16730122. S2CID 8354106.
- Wang F, Wang W, Wähälä K, Adlercreutz H, Ikonen E, Tikkanen MJ (December 2008). "Role of lysosomal acid lipase in the intracellular metabolism of LDL-transported dehydroepiandrosterone-fatty acyl esters" (PDF). Am. J. Physiol. Endocrinol. Metab. 295 (6): E1455–61. doi: 10.1152/ajpendo.90527.2008. PMID 18796546. S2CID 18294238. Archived from the original (PDF) on 2019-02-28.
- Ruaño G, Bernene J, Windemuth A, Bower B, Wencker D, Seip RL, Kocherla M, Holford TR, Petit WA, Hanks S (February 2009). "Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone". Clin. Chim. Acta. 400 (1–2): 48–55. doi: 10.1016/j.cca.2008.10.009. PMID 18996102.
- Pisciotta L, Fresa R, Bellocchio A, Pino E, Guido V, Cantafora A, Di Rocco M, Calandra S, Bertolini S (June 2009). "Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene". Mol. Genet. Metab. 97 (2): 143–8. doi: 10.1016/j.ymgme.2009.02.007. PMID 19307143.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
|
| This article on a gene on human chromosome 10 is a stub. You can help Wikipedia by expanding it. |