rs368039172
This variant is located in the PNLIP gene.
▶ClinVar annotation
Benign★☆☆☆
1 submitter1 publicationAbout PNLIP
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]
View all PNLIP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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