Skip to content
Use your HSA or FSA funds

Gene

LIPA

lipase A, lysosomal acid type

Summary

Cytogenetic location
10q23.31
Coordinates
Chromosome 10: 89,213,572–89,251,775 (GRCh38)
Exons
10 exons across 38.2 kb
Protein
399 amino acids
Inheritance
Autosomal recessive
Also known as
LAL, CESD
MANE Select transcript
ENST00000336233.10NM_000235.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Lysosomal Acid Lipase Deficiency (Wolman Disease and CESD)

    • Lysosomal acid lipase deficiency (Wolman disease and cholesteryl ester storage disease)Autosomal recessive

      Build-up of cholesteryl esters and triglycerides causes enlarged liver, fatty liver and fibrosis, high LDL cholesterol and early atherosclerosis; the infantile form also causes malabsorption and adrenal calcification.

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong
      What knowing changes

      Enzyme replacement therapy (sebelipase alfa) is available, and the condition can be mistaken for fatty liver disease or familial hypercholesterolaemia.

Broader groupings

  • Lysosomal Storage Disease

    • Lysosomal storage disease (other and unspecified types)

      One of 59 genes linked to it

      Covers lysosomal storage diseases without a dedicated report, such as Farber disease and other ASAH1-related disorders, prosaposin (PSAP) deficiencies, multiple sulfatase deficiency, mucopolysaccharidosis types IX and X, and Dorfman-Chanarin disease; inheritance varies by subtype, most often autosomal recessive.

      • ClinGen rates the link definitive
      • 7 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How LIPA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 10, with a bracket where LIPA sits. LIPA and 16 genes near it on chromosome 10, from 88,732,674 to 89,732,673.Chromosome 1010q23.31p15.3p15.2p15.1p14p13p12.33p12.32p12.31p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.31q23.32q23.33q24.1q24.2q24.31q24.32q24.33q25.1q25.2q25.3q26.11q26.12q26.13q26.2q26.388.8 Mb89 Mb89.2 Mb89.4 Mb89.6 MbLIPK: 88,706,249–88,752,776, forward strandLIPKLIPN: 88,759,982–88,779,626, forward strandLIPNLIPM: 88,802,730–88,820,546, forward strandLIPMANKRD22: 88,819,896–88,851,940, reverse strandANKRD22STAMBPL1: 88,879,363–88,975,153, forward strandSTAMBPL1ACTA2: 88,934,815–88,991,339, reverse strandACTA2FAS: 88,953,813–89,029,605, forward strandFASCH25H: 89,205,629–89,207,317, reverse strandCH25HLIPA: 89,213,572–89,251,775, reverse strandLIPAIFIT2: 89,283,694–89,309,271, forward strandIFIT2IFIT3: 89,327,307–89,377,473, forward strandIFIT3IFIT1B: 89,378,050–89,385,205, forward strandIFIT1BIFIT1: 89,392,546–89,406,487, forward strandIFIT1IFIT5: 89,414,568–89,421,605, forward strandIFIT5SLC16A12: 89,430,174–89,556,701, reverse strandSLC16A12PANK1: 89,579,497–89,645,263, reverse strandPANK1KIF20B: 89,701,581–89,774,939, forward strandKIF20BDiagram of LIPA: 10 exons on the reverse strand of chromosome 10Exon 10: 21 known disease-causing sitesExon 9: 8 known disease-causing sitesExon 8: 14 known disease-causing sitesExon 7: 12 known disease-causing sitesExon 6: 18 known disease-causing sitesExon 5: 10 known disease-causing sitesExon 4: 34 known disease-causing sitesExon 3: 13 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 10: 89,213,572–89,215,061, 1,490 basesExon 9: 89,215,938–89,216,009, 72 basesExon 8: 89,222,511–89,222,582, 72 basesExon 7: 89,223,684–89,223,830, 147 basesExon 6: 89,225,092–89,225,228, 137 basesExon 5: 89,226,895–89,227,004, 110 basesExon 4: 89,228,200–89,228,398, 199 basesExon 3: 89,245,676–89,245,793, 118 basesExon 2: 89,247,538–89,247,649, 112 basesExon 1: 89,251,737–89,251,775, 39 bases109876543215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.5 kb of the gene's 38.2 kb; 1,200 of those bases code for the protein.

How a genome test reads LIPA

150

positions in LIPA where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 38.2 kb of LIPA, introns included, not only the 2.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). LIPA gene: lipase A, lysosomal acid type. Retrieved 16 October 2026, from https://dantelabs.com/genes/lipa

Vancouver

Dante Labs. LIPA gene: lipase A, lysosomal acid type [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/lipa

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test