HYB1_human-CEL

General

Gene Locus : human-CEL

Mode of mutation : Natural mutant

Disease : Maturity-onset diabetes of the Young, Type8, with exocrine dysfunction, MODY8

Summary :

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification : risk for chronic pancreatitis

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment :
The risk variant CEL-HYB1, a recombinant hybrid allele of CEL and its neighboring pseudogene (CELP), encodes a pathogenic variant of the pancreatic digestive enzyme carboxyl ester lipase (CEL). We previously identified combinations of two non-synonymous SNPs, c.1463T>C (p. Ile488Thr) and c.1643C>T (p. Thr548Ile), in the break point region of CEL-HYB1. Activity of enzyme not reduced but proteotoxic misfolding. No association between CEL-HYB hybrid allele and Chronic pancreatitis in asian populations

References (7)

Title : The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice - Mao_2022_Cell.Mol.Gastroenterol.Hepatol__
Author(s) : Mao XT , Zou WB , Cao Y , Wang YC , Deng SJ , Cooper DN , Ferec C , Li ZS , Chen JM , Liao Z
Ref : Cell Mol Gastroenterol Hepatol , : , 2022
PubMedID: 35398595

Title : Protein misfolding in combination with other risk factors in CEL-HYB1-mediated chronic pancreatitis - Tjora_2021_Eur.J.Gastroenterol.Hepatol_33_839
Author(s) : Tjora E , Gravdal A , Engjom T , Cnop M , Johansson BB , Dimcevski GG , Molven A , Fjeld K
Ref : European Journal of Gastroenterology & Hepatology , 33 :839 , 2021
PubMedID: 33079780

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
PubMedID: 31963687
Gene_locus related to this paper: human-CEL

Title : Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding - Cassidy_2020_Hum.Mutat_41_1967
Author(s) : Cassidy BM , Zino S , Fjeld K , Molven A , Lowe ME , Xiao X
Ref : Hum Mutat , 41 :1967 , 2020
PubMedID: 32906201
Gene_locus related to this paper: human-CEL

Title : The hybrid allele 1 of carboxyl-ester lipase (CEL-HYB1) in Polish pediatric patients with chronic pancreatitis - Oracz_2019_Pancreatology_19_531
Author(s) : Oracz G , Kujko AA , Fjeld K , Wertheim-Tysarowska K , Adamus-Bialek W , Steine SJ , Koziel D , Gluszek S , Molven A , Rygiel AM
Ref : Pancreatology , 19 :531 , 2019
PubMedID: 31036489

Title : No Association Between CEL-HYB Hybrid Allele and Chronic Pancreatitis in Asian Populations - Zou_2016_Gastroenterology_150_1558
Author(s) : Zou WB , Boulling A , Masamune A , Issarapu P , Masson E , Wu H , Sun XT , Hu LH , Zhou DZ , He L , Fichou Y , Nakano E , Hamada S , Kakuta Y , Kume K , Isayama H , Paliwal S , Mani KR , Bhaskar S , Cooper DN , Ferec C , Shimosegawa T , Chandak GR , Chen JM , Li ZS , Liao Z
Ref : Gastroenterology , 150 :1558 , 2016
PubMedID: 26946345

Title : A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis - Fjeld_2015_Nat.Genet_47_518
Author(s) : Fjeld K , Weiss FU , Lasher D , Rosendahl J , Chen JM , Johansson BB , Kirsten H , Ruffert C , Masson E , Steine SJ , Bugert P , Cnop M , Grutzmann R , Mayerle J , Mossner J , Ringdal M , Schulz HU , Sendler M , Simon P , Sztromwasser P , Torsvik J , Scholz M , Tjora E , Ferec C , Witt H , Lerch MM , Njolstad PR , Johansson S , Molven A
Ref : Nat Genet , 47 :518 , 2015
PubMedID: 25774637