PNLIP

Chr 10

pancreatic lipase

Also known as: PL, PNLIPD, PTL

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]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPancreatic lipase deficiency
0
Active trials
13
Pubs (1 yr)
P/LP submissions
P/LP missense
0.99
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — PNLIP
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.99LOEUF
pLI 0.000
Z-score 1.60
OE 0.65 (0.440.99)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.44Z-score
OE missense 0.92 (0.831.03)
237 obs / 257.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.440.99)
00.351.4
Missense OE?0.92 (0.831.03)
00.61.4
Synonymous OE?1.10
01.21.6
LoF obs/exp: 16 / 24.6Missense obs/exp: 237 / 257.0Syn Z: -0.79

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PNLIP · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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