LIPA lipase A, lysosomal acid type
Gene ID: 3988, updated on 14-Nov-2024Gene type: protein coding
Also known as: LAL; CESD
- See all available tests in GTR for this gene
- Go to complete Gene record for LIPA
- Go to Variation Viewer for LIPA variants
Summary
This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease. GeneReviews: Not available | |
| A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. GeneReviews: Not available | |
| Cholesteryl ester storage disease | not available |
| Wolman disease | not available |
Genomic context
- Location:
- 10q23.31
- Sequence:
- Chromosome: 10; NC_000010.11 (89213572..89251775, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for LIPA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LIPA database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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