Carboxyl ester lipase
The gene CEL encodes a glycoprotein secreted from the pancreas and the lactating mammary gland. Its function is to cleave cholesterol esters ti facilitate its absorption in the digestive tract.
In exon 11 there is a variable number of repeats (VNTR) found in normal controls (7-23). A study found a correlation between only three such repeats and the incidence of diabetes. These findings were not generally approved, so now it is considered suffient criterion for the diagnosis of type 8 MODY.[Error: Macro 'ref' doesn't exist]
Hardt PD et al. (2003) High prevalence of exocrine pancreatic insufficiency in diabetes mellitus. A multicenter study screening fecal elastase 1 concentrations in 1,021 diabetic patients.
Raeder H et al. (2006) Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.
Torsvik J et al. (2010) Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.
Orphanet ID 119333
Wikipedia EN (Bile_salt-dependent_lipase)
Update: Aug. 14, 2020