Gene Locus : human-PNLIP
Mode of mutation : Natural mutant
Disease : Congenital absence of pancreatic lipase
Summary : Natural mutation Mutation found in two brothers with congenital pancreatic lipase deficiency Behar_2014_J.Lipid.Res_55_307
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 : Homozygote missense mutation, Thr221Met [c.662C>T], in two brothers from a consanguineous family. Mutation disrupts the protein's stability and impairs its normal function
| Title : A novel mutation in PNLIP causes pancreatic triglyceride lipase deficiency through protein misfolding - Szabo_2015_Biochim.Biophys.Acta_1852_1372 |
| Author(s) : Szabo A , Xiao X , Haughney M , Spector A , Sahin-Toth M , Lowe ME |
| Ref : Biochimica & Biophysica Acta , 1852 :1372 , 2015 |
| Abstract : Szabo_2015_Biochim.Biophys.Acta_1852_1372 |
| ESTHER : Szabo_2015_Biochim.Biophys.Acta_1852_1372 |
| PubMedSearch : Szabo_2015_Biochim.Biophys.Acta_1852_1372 |
| PubMedID: 25862608 |
| Gene_locus related to this paper: human-PNLIP |
| Title : Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency - Behar_2014_J.Lipid.Res_55_307 |
| Author(s) : Behar DM , Basel-Vanagaite L , Glaser F , Kaplan M , Tzur S , Magal N , Eidlitz-Markus T , Haimi-Cohen Y , Sarig G , Bormans C , Shohat M , Zeharia A |
| Ref : J Lipid Res , 55 :307 , 2014 |
| Abstract : Behar_2014_J.Lipid.Res_55_307 |
| ESTHER : Behar_2014_J.Lipid.Res_55_307 |
| PubMedSearch : Behar_2014_J.Lipid.Res_55_307 |
| PubMedID: 24262094 |
| Gene_locus related to this paper: human-PNLIP |