AlphaFold predicted structure
LIPA · P38571
Mean pLDDT
91.6/ 100
Very high
399 residues
Confidence breakdown
- Very high(≥ 90)81%
- Confident(70–90)11%
- Low(50–70)3%
- Very low(< 50)5%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
LIPA
Chr 10q23.31lipase A, lysosomal acid type
- Aliases:
- LAL, CESD
- MANE:
- ENST00000336233.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Cholestasis
BIALLELIC, autosomal or pseudoautosomalFamilial hypercholesterolaemia
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalFetal hydrops
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalLysosomal acid lipase deficiency
BIALLELIC, autosomal or pseudoautosomalLysosomal storage disorder
BIALLELIC, autosomal or pseudoautosomalNeonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
cholesteryl ester storage disease
0.82Wolman disease
0.80lysosomal acid lipase deficiency
0.75coronary artery disorder
0.56myocardial infarction
0.53abdominal aortic aneurysm
0.48cardiovascular disorder
0.48Abnormality of the cardiovascular system
0.47cholestasis
0.46coronary atherosclerosis
0.45
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Lysosomal acid lipase/cholesteryl ester hydrolase
Catalyzes the deacylation of cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol (PubMed:15269241, PubMed:1718995, PubMed:7204383, PubMed:8112342, PubMed:9633819). Hydrolyzes triglycerides (1,2,3-triacylglycerol) and diglycerides (such as 1,2-diacylglycerol and 1,3-diacylglycerol) with preference for the acyl moieties at the sn-1 or sn-3 positions (PubMed:7204383, PubMed:8112342)