9.08 MODY8 Maturity onset diabetes of the young, type VIII

The carboxyl-ester lipase (CEL) gene is expressed in acinar cells of the exocrine pancreas where it encodes a bile salt-dependent lipase that is incorporated into pancreatic digestive juice. The carboxyl-ester lipase hydrolyzes cholesterol esters and lipid soluble vitamins in the small intestine. Heterozygous mutations in the CEL gene are associated with early pancreatic atrophy and subsequent exocrine insufficiency, pancreatic lipomatosis, and endocrine dysfunction due to misfolding and cytotoxic aggregation of carboxyl-ester lipase. CEL-MODY presents as adulthood-onset diabetes mellitus (PMID:33292863).

Statistics

Interactions27Proteins/Genes8Chemical compounds/drugs1
Biological Process(GO)3Phenotype6

Chemical compounds/drugs

Bile salt1