PNLIP Chromosome 10
Pancreatic lipase
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What This Gene Does
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]
Gene Info
Gene Group
Lipases
Locus Type
gene with protein product
Location
10q25.3
Ensembl
ENSG00000175535
Associated Conditions (1)
Pancreatic triacylglycerol lipase deficiency
Key Variants
RS1847222071
Likely pathogenic
Health Risk
RS2493052423
Likely pathogenic
Health Risk
RS775565405
Likely pathogenic
Health Risk
RS1209270051
Pathogenic
Health Risk
RS1455993955
Pathogenic
Health Risk
RS1847288716
Pathogenic
Health Risk
RS1847315177
Pathogenic
Health Risk
RS746000327
Pathogenic
Pancreatic triacylglycerol lipase deficiency, Pancreatic triacylglycerol lipase deficiency
Health Risk
RS756545123
Pathogenic
Health Risk
RS760408686
Pathogenic
Health Risk
RS765879360
Pathogenic
Pancreatic triacylglycerol lipase deficiency, Pancreatic triacylglycerol lipase deficiency
Health Risk
RS777793881
Pathogenic
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1847222071 | Health Risk | Likely pathogenic | — |
| RS2493052423 | Health Risk | Likely pathogenic | — |
| RS775565405 | Health Risk | Likely pathogenic | — |
| RS1209270051 | Health Risk | Pathogenic | — |
| RS1455993955 | Health Risk | Pathogenic | — |
| RS1847288716 | Health Risk | Pathogenic | — |
| RS1847315177 | Health Risk | Pathogenic | — |
| RS746000327 | Health Risk | Pathogenic | Pancreatic triacylglycerol lipase deficiency, Pancreatic triacylglycerol lipase deficiency |
| RS756545123 | Health Risk | Pathogenic | — |
| RS760408686 | Health Risk | Pathogenic | — |
| RS765879360 | Health Risk | Pathogenic | Pancreatic triacylglycerol lipase deficiency, Pancreatic triacylglycerol lipase deficiency |
| RS777793881 | Health Risk | Pathogenic | — |