Symbol
| PNLIPRP2
| contributors: mct - updated : 02-05-2011
|
HGNC name
| pancreatic lipase-related protein 2
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HGNC id
| 9157
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
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constitutional
| germinal mutation
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W340X mutation may contribute to aberrant folding, may have other cellular effects along with the general loss of lipolytic activity, and may increase susceptibility of pancreatic exocrine cells to other metabolic stressors  | |
Variant & Polymorphism
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Candidate gene
Marker
Therapy target
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| Plrp2-deficient mouse pups have significant fat maldigestion that disappears coincident with the expression of Pnipl thereby confirming the important role of Plrp2 in fat digestion in the newborn mouse |