3repeatVNTR_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 : Natural mutation deletion Torsvik_2010_Hum.Genet_127_55

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 :
In a family 7 patients showed only 3 repeats in the VNTR instead of the 7 to 23 repeats found in healthy subjects

References (2)

Title : Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes - Torsvik_2010_Hum.Genet_127_55
Author(s) : Torsvik J , Johansson S , Johansen A , Ek J , Minton J , Raeder H , Ellard S , Hattersley A , Pedersen O , Hansen T , Molven A , Njolstad PR
Ref : Hum Genet , 127 :55 , 2010
Abstract :
PubMedSearch : Torsvik_2010_Hum.Genet_127_55
PubMedID: 19760265
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