Gene Locus : human-CEL
Mode of mutation : Natural mutant
Disease : Maturity-onset diabetes of the Young, Type8, with exocrine dysfunction, MODY8
Summary : Natural mutation deletion Raeder_2006_Nat.Genet_38_54
AAA Change :
Allelic Variant : V596CfsX695_human-CEL
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 :
c.1785delC p.Val596CysfsX99 V596CfsX99 DEL4 In a family with autosomal dominant diabetes and primary pancreatic beta-cell dysfunction , Raeder et al. (2006) found a single-base deletion (1785delC\; C596fsX695) in the fourth repeating segment of exon 11 of the CEL gene. The mutation was found by sequencing the CEL gene in 38 probands, from a Norwegian diabetes registry, known to be negative for disease-causing mutations in any of the MODY genes and was present in all family members with both diabetes and fecal elastase deficiency (FED), or FED only. The deletion-specific haplotype differed from that of their first family.
| Title : Pathogenic Carboxyl Ester Lipase (CEL) Variants Interact with the Normal CEL Protein in Pancreatic Cells - Dalva_2020_Cells_9_244 |
| Author(s) : Dalva M , Lavik IK , El Jellas K , Gravdal A , Lugea A , Pandol SJ , Njolstad PR , Waldron RT , Fjeld K , Johansson BB , Molven A |
| Ref : Cells , 9 :244 , 2020 |
| Abstract : |
| PubMedSearch : Dalva_2020_Cells_9_244 |
| PubMedID: 31963687 |
| Gene_locus related to this paper: human-CEL |
| Title : Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease - Johansson_2011_J.Biol.Chem_286_34593 |
| Author(s) : Johansson BB , Torsvik J , Bjorkhaug L , Vesterhus M , Ragvin A , Tjora E , Fjeld K , Hoem D , Johansson S , Raeder H , Lindquist S , Hernell O , Cnop M , Saraste J , Flatmark T , Molven A , Njolstad PR |
| Ref : Journal of Biological Chemistry , 286 :34593 , 2011 |
| Abstract : |
| PubMedSearch : Johansson_2011_J.Biol.Chem_286_34593 |
| PubMedID: 21784842 |
| Gene_locus related to this paper: human-CEL |
| Title : Pancreatic function in carboxyl-ester lipase knockout mice - Vesterhus_2010_Pancreatology_10_467 |
| Author(s) : Vesterhus M , Raeder H , Kurpad AJ , Kawamori D , Molven A , Kulkarni RN , Kahn CR , Njolstad PR |
| Ref : Pancreatology , 10 :467 , 2010 |
| Abstract : |
| PubMedSearch : Vesterhus_2010_Pancreatology_10_467 |
| PubMedID: 20720448 |
| Gene_locus related to this paper: human-CEL |
| Title : Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations - Vesterhus_2008_Diabetes.Care_31_1738 |
| Author(s) : Vesterhus M , Raeder H , Aurlien H , Gjesdal CG , Bredrup C , Holm PI , Molven A , Bindoff L , Berstad A , Njolstad PR |
| Ref : Diabetes Care , 31 :1738 , 2008 |
| Abstract : |
| PubMedSearch : Vesterhus_2008_Diabetes.Care_31_1738 |
| PubMedID: 18544793 |
| Gene_locus related to this paper: human-CEL |
| Title : Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction. - Raeder_2006_Nat.Genet_38_54 |
| Author(s) : Raeder H , Johansson S , Holm PI , Haldorsen IS , Mas E , Sbarra V , Nermoen I , Eide SA , Grevle L , Bjorkhaug L , Sagen JV , Aksnes L , Svik O , Lombardo D , Molven A , Njolstad PR |
| Ref : Nat Genet , 38 :54 , 2006 |
| Abstract : |
| PubMedSearch : Raeder_2006_Nat.Genet_38_54 |
| PubMedID: 16369531 |
| Gene_locus related to this paper: human-CEL |