PNLIP pancreatic lipase
Gene ID: 5406, updated on 5-Mar-2024Gene type: protein coding
Also known as: PL; PTL; PNLIPD
- See all available tests in GTR for this gene
- Go to complete Gene record for PNLIP
- Go to Variation Viewer for PNLIP variants
Summary
This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of proneness to anger. GeneReviews: Not available | |
| Pancreatic triacylglycerol lipase deficiency | See labs |
Genomic context
- Location:
- 10q25.3
- Sequence:
- Chromosome: 10; NC_000010.11 (116545931..116567855)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PNLIP variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PNLIP database
- 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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