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LIPA

lipase A, lysosomal acid type

The LIPA gene provides instructions for producing lysosomal acid lipase, an enzyme vital for breaking down fats within lysosomes. The LIPA gene encodes for lysosomal acid lipase, an enzyme that plays a crucial role in lipid metabolism by breaking down cholesteryl esters and triglycerides.

Chromosome 10q23.31 Autosomal recessive HGNC:6617 Tier C
LIPA 10q23.31 p arm q arm 10

LIPA is located on the long (q) arm of chromosome 10, at band 10q23.31. Arm ratio per GRCh38 - banding schematic.

Explore chromosome 10 in the library →

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Clinical tests that include this

Carrier Screening panel
LIPA is 1 of 1,008 genes on this panel
Expanded carrier screening for recessive and X-linked conditions
Newborn Genetic Screening panel
LIPA is 1 of 258 genes on this panel
Genomic newborn screening for actionable paediatric conditions

Overview

The LIPA gene, also known as lipase A, lysosomal acid type, provides the genetic blueprint for an enzyme called lysosomal acid lipase. This enzyme is primarily located within lysosomes, which are cellular compartments responsible for digesting and recycling waste materials. Its primary function involves the breakdown and processing of specific fat molecules [PMID:17968853].

What the gene does

Lysosomal acid lipase, an enzyme generated from the LIPA gene, is crucial for lipid metabolism within cellular lysosomes. This enzyme works to dismantle complex fats, specifically cholesteryl esters and triglycerides. Cholesteryl esters are composed of cholesterol linked to a fatty acid, and the enzyme separates these components. Additionally, the enzyme processes triglycerides, which are stored fats, into fatty acids that can be utilised for energy [PMID:23783942]. The products resulting from these breakdown processes are either used by the body for various biological functions or transported to the liver for further processing and eventual removal.

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Chromosome location

The LIPA gene is situated on chromosome 10, specifically at position 10q23.31. This genomic location specifies its precise address within the human genome.

Protein structure

The LIPA protein, identified as lysosomal acid lipase, consists of 399 amino acids. It features a significant AB hydrolase-1 domain, spanning from amino acid positions 80 to 380, which is characteristic of enzymes involved in hydrolysing ester bonds [PMID:23783942].

Domain map · 399 amino acids
AB hydrolase-1 (80-380)AB hydrolase-180-3801~200399
Domain - independent functional unit
🧬 Explore 3D structure on AlphaFold
UniProt:P38571Length:399 aaStructure:AlphaFold

Key variants

Genetic variations within the LIPA gene can alter the function or production of lysosomal acid lipase. These changes can range from single nucleotide substitutions to larger deletions or insertions, potentially affecting the enzyme's ability to break down lipids effectively.

The table below shows the top 10 pathogenic or likely-pathogenic variants currently classified in ClinVar for LIPA.
View all on ClinVar →

Sample of pathogenic variants

10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.

Variant (HGVS) Protein change Classification Evidence Associated condition
c.1180_1184del
Deletion
 p.Leu394fs Pathogenic/Likely pathogenic ★★☆☆ Wolman disease
c.131G>A
single nucleotide variant
 p.Trp44Ter Pathogenic/Likely pathogenic ★★☆☆ Wolman disease
c.132G>A
single nucleotide variant
 p.Trp44Ter Pathogenic/Likely pathogenic ★★☆☆ Wolman disease
c.213del
Deletion
 p.Asn72fs Pathogenic/Likely pathogenic ★★☆☆ Lysosomal acid lipase deficiency
c.294C>A
single nucleotide variant
 p.Asn98Lys Pathogenic/Likely pathogenic ★★☆☆ Wolman disease
c.331dup
Duplication
 p.Ala111fs Pathogenic/Likely pathogenic ★★☆☆ Lysosomal acid lipase deficiency
c.538+1G>A
single nucleotide variant
 - Pathogenic ★★☆☆ Lysosomal acid lipase deficiency
c.611_618del
Deletion
 p.Ala204fs Pathogenic/Likely pathogenic ★★☆☆ Lysosomal acid lipase deficiency
c.615_624del
Deletion
 p.Ala207fs Pathogenic/Likely pathogenic ★★☆☆ Lysosomal acid lipase deficiency
c.652C>T
single nucleotide variant
 p.Arg218Ter Pathogenic ★★☆☆ Wolman disease

Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.

Associated conditions

Pathogenic variants in the LIPA gene are associated with a spectrum of conditions, including Wolman disease and Cholesterol Ester Storage Disease (CESD), collectively known as lysosomal acid lipase deficiency. These autosomal recessive conditions arise from insufficient functional lysosomal acid lipase, leading to the harmful accumulation of fats in various tissues and organs throughout the body.

  • Wolman disease / CESD
    IEM
    AR
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Inheritance pattern

Conditions caused by pathogenic LIPA variants typically follow autosomal recessive inheritance.

♀ Carrier parent 1 altered copy ♂ Carrier parent 1 altered copy Affected Carrier Carrier Unaffected Affected Carrier Unaffected Circles = females · Squares = males

When both parents are carriers, each child has a 25% chance of being affected, 50% of being a carrier, and 25% of being unaffected.

Carrier frequency by population How common is heterozygous LIPA carrier status across ancestry groups?

UK clinical status

The LIPA gene is an important focus for genetic testing within the UK, appearing on several NHS Genomic Medicine Service national panels. These include panels for Cholestasis (R171), Familial hypercholesterolaemia, Foetal anomalies (R21), Foetal hydrops, Likely inborn error of metabolism (R98), Lysosomal acid lipase deficiency (R325), Lysosomal storage disorder (R276), Neonatal cholestasis, and Undiagnosed metabolic disorders, indicating its relevance in diagnosing a range of inherited conditions.

Green-listed
High evidence · clinically actionable in NHS testing
Included in NHS GMS signed-off panels
Cholestasis · R171 NHS GMS → Fetal anomalies · R21 NHS GMS → Likely inborn error of metabolism · R98 NHS GMS → Lysosomal acid lipase deficiency · R325 NHS GMS → Lysosomal storage disorder · R276 NHS GMS →
NHS Genomic Medicine Service Jeen carrier screening

Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory

Frequently asked questions

What is the function of the LIPA gene?

The LIPA gene provides instructions for creating lysosomal acid lipase, an enzyme found in lysosomes. This enzyme is crucial for breaking down fats like cholesteryl esters and triglycerides into components the body can use or remove.

What happens if the LIPA gene doesn't work correctly?

If the LIPA gene is not functioning properly, it can lead to a deficiency of lysosomal acid lipase. This deficiency causes fats to accumulate in cells and tissues, resulting in conditions such as Wolman disease and Cholesterol Ester Storage Disease (CESD).

How is lysosomal acid lipase deficiency inherited?

Lysosomal acid lipase deficiency, caused by variants in the LIPA gene, is inherited in an autosomal recessive pattern. This means an individual must inherit two altered copies of the gene, one from each parent, to develop the condition.

References

  1. Reiner Ž, Guardamagna O, Nair D. Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis. 2014. PMID: 24792990
  2. Zhang B, Porto AF. Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. Journal of pediatric gastroenterology and nutrition. 2013. PMID: 23403440
  3. Scott SA, Liu B, Nazarenko I. Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. Hepatology (Baltimore, Md.). 2013. PMID: 23424026
  4. Saito S, Ohno K, Suzuki T. Structural bases of Wolman disease and cholesteryl ester storage disease. Molecular genetics and metabolism. 2012. PMID: 22138108
Educational content. This page is not medical or genetic advice, is not individually reviewed by a clinician for each reader, and should not replace a consultation with a qualified healthcare professional or genetic counsellor. If you are considering genetic testing or acting on a test result, book a consultation.
Data sources Last updated 18 October 2026. Content compiled from HGNC · MedlinePlus Genetics · ClinGen · Genomics England PanelApp · NHS National Genomic Test Directory · ClinVar · UniProt · AlphaFold .