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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
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Wolman disease
LIPA
Lysosomal acid lipase deficiency
LIPA
Chylomicronemia
ABCA1
ABCG5
APOA5
APOC2
APOE
Chylomicron retention disease
SAR1B
GPIHBP1
LCAT
LIPA
LIPC
LMF1
LPL
SAR1B

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 external link
16.

OMIM.ORG article

Omim 613497 external link
17.

Orphanet article

Orphanet ID 123063 external link
18.

Wikipedia article

Wikipedia EN (Lysosomal_lipase) external link
Update: Aug. 14, 2020
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