Gene Locus : human-PNLIP
Mode of mutation : Natural mutant
Disease : Congenital absence of pancreatic lipase
Summary : Natural mutation Protease-sensitive protein Lasher_2019_Am.J.Gastroenterol_114_974
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 : Heterozygote missense mutation, Phe300Leu p.F300L c.900C>A rs890551695 Protease-sensitive protein. Variants associated with early onset chronic pancreatitis
| Title : Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis - Masson_2023_Pancreatology__ |
| Author(s) : Masson E , Berthet S , Le Gac G , Le Rhun M , Ka C , Autret S , Gourlaouen I |
| Ref : Pancreatology , : , 2023 |
| Abstract : Masson_2023_Pancreatology__ |
| ESTHER : Masson_2023_Pancreatology__ |
| PubMedSearch : Masson_2023_Pancreatology__ |
| PubMedID: 37270400 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis - Lasher_2019_Am.J.Gastroenterol_114_974 |
| Author(s) : Lasher D , Szabo A , Masamune A , Chen JM , Xiao X , Whitcomb DC , Barmada MM , Ewers M , Ruffert C , Paliwal S , Issarapu P , Bhaskar S , Mani KR , Chandak GR , Laumen H , Masson E , Kume K , Hamada S , Nakano E , Seltsam K , Bugert P , Muller T , Groneberg DA , Shimosegawa T , Rosendahl J , Ferec C , Lowe ME , Witt H , Sahin-Toth M |
| Ref : Am J Gastroenterol , 114 :974 , 2019 |
| Abstract : Lasher_2019_Am.J.Gastroenterol_114_974 |
| ESTHER : Lasher_2019_Am.J.Gastroenterol_114_974 |
| PubMedSearch : Lasher_2019_Am.J.Gastroenterol_114_974 |
| PubMedID: 30789418 |
| Gene_locus related to this paper: human-PNLIP |