Gene Locus : human-PNLIP
Mode of mutation : Natural mutant
Disease : Congenital absence of pancreatic lipase
Summary : Natural mutation Risk factor for pancreatic cancer lipase activity impairedr Tamura_2018_Proc.Natl.Acad.Sci.U.S.A_115_4767
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, His92Asn p.H92N c.274C>A. rs368162708. p.H92N showed impaired activity against tributyrin, trioctanoin, or triolein. Risk factor for pancreatic cancer: the p.H92N variant was found in two affected subjects but not in healthy controls. Not found among variants associated with early onset chronic pancreatitis
| 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 |
| Title : Mutations in the pancreatic secretory enzymes CPA1 and CPB1 are associated with pancreatic cancer - Tamura_2018_Proc.Natl.Acad.Sci.U.S.A_115_4767 |
| Author(s) : Tamura K , Yu J , Hata T , Suenaga M , Shindo K , Abe T , MacGregor-Das A , Borges M , Wolfgang CL , Weiss MJ , He J , Canto MI , Petersen GM , Gallinger S , Syngal S , Brand RE , Rustgi A , Olson SH , Stoffel E , Cote ML , Zogopoulos G , Potash JB , Goes FS , McCombie RW , Zandi PP , Pirooznia M , Kramer M , Parla J , Eshleman JR , Roberts NJ , Hruban RH , Klein AP , Goggins M |
| Ref : Proc Natl Acad Sci U S A , 115 :4767 , 2018 |
| Abstract : Tamura_2018_Proc.Natl.Acad.Sci.U.S.A_115_4767 |
| ESTHER : Tamura_2018_Proc.Natl.Acad.Sci.U.S.A_115_4767 |
| PubMedSearch : Tamura_2018_Proc.Natl.Acad.Sci.U.S.A_115_4767 |
| PubMedID: 29669919 |