LIPA Gene (Lipase A, Lysosomal Acid Type)
Genetic insights into LIPA: from lysosomal lipid metabolism to disease
Gene Information Card
| Symbol | LIPA |
|---|---|
| Full Name | Lipase A, Lysosomal Acid Type |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 3991 ncbi.nlm.nih.gov/gene/3991 |
| Ensembl ID | ENSG00000107798 |
| UniProt ID | P38571 |
| OMIM ID | 613497 |
| HGNC ID | 6617 |
| Aliases | LAL, CESD, cholesterol ester hydrolase |
Description
The LIPA gene encodes lysosomal acid lipase (LAL), a key enzyme that hydrolyzes cholesteryl esters and triglycerides within lysosomes, releasing free cholesterol and fatty acids for cellular use. Defects in LIPA lead to lysosomal lipid accumulation, causing Wolman disease (severe infantile form) and cholesteryl ester storage disease (milder adult form).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Wolman disease | Complete loss of LAL activity due to biallelic null mutations, leading to massive accumulation of cholesteryl esters and triglycerides in lysosomes of multiple organs. | OMIM 278000; ClinVar |
| Cholesteryl ester storage disease (CESD) | Partial LAL deficiency from missense or splice-site mutations, causing milder lipid accumulation, typically presenting with hepatomegaly, hyperlipidemia, and atherosclerosis. | OMIM 278000; ClinVar |
| Premature atherosclerosis | LAL deficiency leads to elevated LDL cholesterol and foam cell formation, increasing cardiovascular risk. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 20.1 | High |
| Spleen | 15.3 | Medium |
| Adrenal gland | 12.8 | Medium |
| Lung | 10.2 | Medium |
| Small intestine | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 25.4 | Liver cancer cell line, high expression |
| THP-1 | 18.7 | Monocytic leukemia, high expression |
| A549 | 12.3 | Lung carcinoma, moderate |
| MCF7 | 9.8 | Breast cancer, moderate |
| K562 | 6.2 | Leukemia, low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.894G>A (splice site) | Splice-site mutation | Common in CESD | Partial LAL deficiency, exon skipping |
| p.Leu136Pro | Missense | Rare | Reduced enzyme activity |
| p.Arg44His | Missense | Rare | Impaired catalytic function |
| c.260G>T | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most LIPA mutations are loss-of-function, reducing or abolishing LAL activity. Complete loss causes Wolman disease; partial loss causes CESD.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; LIPA is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • lysosomal lumen | • cholesteryl ester hydrolase activity |
| • triglyceride lipase activity | • lipid catabolic process |
| • cholesterol metabolic process |
Pathways
• Lysosomal lipid metabolism
• Cholesterol metabolism
• Triglyceride catabolism
Protein Summary
Lysosomal acid lipase (LAL) is a glycoprotein synthesized as a precursor that is processed to a mature form in lysosomes. It requires acidic pH for optimal activity and is essential for hydrolyzing cholesteryl esters and triglycerides delivered via LDL receptor-mediated endocytosis. Deficiency leads to lysosomal storage disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LIPA Knockout HEK293 Cell Line | EDJ-KQ17862 | Human | 3988 | Details Get a Quote |
| LIPA Knockout A-549 Cell Line | EDJ-KQ43999 | Human | 3988 | Details Get a Quote |
| LIPA Knockout HCT 116 Cell Line | EDJ-KQ44000 | Human | 3988 | Details Get a Quote |
| LIPA Knockout HeLa Cell Line | EDJ-KQ42769 | Human | 3988 | Details Get a Quote |
| LIPA Knockout SH-SY5Y Cell Line | EDJ-KZ335 | Human | 3988 | Details Get a Quote |
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