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 : C563fsX673_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 :
In a large Norwegian family with autosomal dominant diabetes, typically detected before the age of 40 years, and primary pancreatic beta-cell dysfunction, Raeder et al. (2006) identified a single-base deletion, 1686delT, in exon 11 of the CEL gene. The deletion occurred in the first repeat of a 14-repeat allele and was predicted to alter the reading frame from amino acid residue 563 leading to a premature stop codon after residue 672 (C563fsX673).CEL-DEL1 DEL1
| Title : The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity - Gravdal_2021_J.Biol.Chem_296_100661 |
| Author(s) : Gravdal A , Xiao X , Cnop M , El Jellas K , Johansson S , Njolstad PR , Lowe ME , Johansson BB , Molven A , Fjeld K |
| Ref : Journal of Biological Chemistry , 296 :100661 , 2021 |
| Abstract : |
| PubMedSearch : Gravdal_2021_J.Biol.Chem_296_100661 |
| PubMedID: 33862081 |
| Title : A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate Apoptosis - Xiao_2016_J.Biol.Chem_291_23224 |
| Author(s) : Xiao X , Jones G , Sevilla WA , Stolz DB , Magee KE , Haughney M , Mukherjee A , Wang Y , Lowe ME |
| Ref : Journal of Biological Chemistry , 291 :23224 , 2016 |
| Abstract : |
| PubMedSearch : Xiao_2016_J.Biol.Chem_291_23224 |
| PubMedID: 27650499 |
| 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 |