Lysosomal acid lipase
The LIPA gene encodes a lysosomal acid lipase which cleaves cholesterol esters. A deficiency caused by mutations results in autosomal recessive disorders such as Wolman disease and cholesterol ester storage disease.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Koch G et al. (1981) Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19.
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2. |
Lee TM et al. (2011) Intragenic deletion as a novel type of mutation in Wolman disease.
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3. |
Fujiyama J et al. (1996) A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.
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4. |
Pagani F et al. (1996) Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.
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5. |
Aslanidis C et al. (1996) Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
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6. |
Maslen CL et al. (1995) Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.
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7. |
Muntoni S et al. (1996) A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations.
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8. |
Anderson RA et al. (1993) In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3.
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9. |
Klima H et al. (1993) A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
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10. |
Anderson RA et al. (1994) Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
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11. |
Aslanidis C et al. (1994) Genomic organization of the human lysosomal acid lipase gene (LIPA).
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12. |
Muntoni S et al. (1995) Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).
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13. |
Warner TG et al. (1980) Separation and characterization of the acid lipase and neutral esterases from human liver.
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14. |
Anderson RA et al. (1991) Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases.
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15. |
NCBI article
NCBI 3988
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16. |
OMIM.ORG article
Omim 613497
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17. |
Orphanet article
Orphanet ID 123063
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18. |
Wikipedia article
Wikipedia EN (Lysosomal_lipase)
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Update: Aug. 14, 2020