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Article

The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity.

The Journal of biological chemistry - 1 Jan 2000

Gravdal Anny, Xiao Xunjun, Cnop Miriam, El Jellas Khadija, Johansson Stefan, Njølstad Pål R, Lowe Mark E, Johansson Bente B, Molven Anders, Fjeld Karianne

Abstract excerpt

Variable number of tandem repeat (VNTR) sequences in the genome can have functional consequences that contribute to human disease. This is the case for the CEL gene, which is specifically expressed in pancreatic acinar cells and encodes the digestive enzyme carboxyl ester lipase. Rare single-base deletions (DELs) within the first (DEL1) or fourth (DEL4) VNTR segment of CEL cause maturity-onset diabetes of the...

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Identifiers

PMID: 33862081
DOI: 10.1016/j.jbc.2021.100661
PMCID: PMC8692231

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The position of single-base deletions in the VNTR sequence of the carboxyl ester lipase (CEL) gene determines proteotoxicity.PMID 33862081Read ↗

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