Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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.

Gene Structure

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]

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

MODY8 diabetes
CEL

References:

1.

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.

external link
2.

Raeder H et al. (2006) Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.

external link
3.

Torsvik J et al. (2010) Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.

external link
4.

NCBI article

NCBI 1056 external link
5.

OMIM.ORG article

Omim 114840 external link
6.

Orphanet article

Orphanet ID 119333 external link
7.

Wikipedia article

Wikipedia EN (Bile_salt-dependent_lipase) external link
Update: Aug. 14, 2020
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