Article
Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.
Human molecular genetics - 18 May 2024
Brekke Ranveig S, Gravdal Anny, El Jellas Khadija, Curry Grace E, Lin Jianguo, Wilhelm Steven J, Steine Solrun J, Mas Eric, Johansson Stefan, Lowe Mark E, Johansson Bente B, Xiao Xunjun, Fjeld Karianne, Molven Anders
Abstract excerpt
The CEL gene encodes carboxyl ester lipase, a pancreatic digestive enzyme. CEL is extremely polymorphic due to a variable number tandem repeat (VNTR) located in the last exon. Single-base deletions within this VNTR cause the inherited disorder MODY8, whereas little is known about VNTR single-base insertions in pancreatic disease. We therefore mapped CEL insertion variants (CEL-INS) in 200 Norwegian patients with...
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