G233E_human-PNLIP

General

Gene Locus : human-PNLIP

Mode of mutation : Natural mutant

Disease : Congenital absence of pancreatic lipase

Summary : Natural mutation Toldi_2021_Pancreatology__

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment :

References (2)

Title : Molecular dynamics simulations elucidate the misfolding mechanisms of secretion-defective pancreatic lipase variants - Hoffka_2026_Febs.j__
Author(s) : Hoffka G , Szabo A
Ref : Febs J , : , 2026
Abstract :
PubMedSearch : Hoffka_2026_Febs.j__
PubMedID: 42300974
Gene_locus related to this paper: human-PNLIP

Title : Missense PNLIP mutations impeding pancreatic lipase secretion cause protein misfolding and endoplasmic reticulum stress - Toldi_2021_Pancreatology__
Author(s) : Toldi V , Kassay N , Szabo A
Ref : Pancreatology , : , 2021
Abstract :
PubMedSearch : Toldi_2021_Pancreatology__
PubMedID: 34373204
Gene_locus related to this paper: human-PNLIP