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:
Related Diseases:
References:
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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.
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2. |
Raeder H et al. (2006) Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.
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3. |
Torsvik J et al. (2010) Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes.
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4. |
NCBI article
NCBI 1056
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5. |
OMIM.ORG article
Omim 114840
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6. |
Orphanet article
Orphanet ID 119333
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7. |
Wikipedia article
Wikipedia EN (Bile_salt-dependent_lipase)
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Update: Aug. 14, 2020