CEL Chromosome 9
Carboxyl ester lipase
Upload your DNA to see your personal genotypes for variants in CEL.
What This Gene Does
The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Lipases
Locus Type
gene with protein product
Location
9q34.13
Ensembl
ENSG00000170835
Associated Conditions (5)
Maturity-onset diabetes of the young type 8
Maturity-onset diabetes of the young
Inborn genetic diseases
Monogenic diabetes
CEL-related disorder
Key Variants
RS1200339761
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 8
Health Risk
RS1269812562
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
Health Risk
RS1322454680
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1329061274
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1341981506
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
Health Risk
RS201074543
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
Health Risk
RS201336247
Conflicting classifications of pathogenicity
Monogenic diabetes, Maturity-onset diabetes of the young type 8, Monogenic diabetes
Health Risk
RS2490435311
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 8, CEL-related disorder, Maturity-onset diabetes of the young type 8
Health Risk
RS369868891
Conflicting classifications of pathogenicity
Monogenic diabetes, Maturity-onset diabetes of the young type 8, Monogenic diabetes
Health Risk
RS377284693
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
Health Risk
RS572853045
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
Health Risk
RS587780308
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1200339761 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 8 |
| RS1269812562 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8 |
| RS1322454680 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1329061274 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1341981506 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8 |
| RS201074543 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8 |
| RS201336247 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Maturity-onset diabetes of the young type 8, Monogenic diabetes |
| RS2490435311 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 8, CEL-related disorder, Maturity-onset diabetes of the young type 8 |
| RS369868891 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Maturity-onset diabetes of the young type 8, Monogenic diabetes |
| RS377284693 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8 |
| RS572853045 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8 |
| RS587780308 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8 |
| RS587780309 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young, Maturity-onset diabetes of the young |
| RS751119069 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS756449511 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8 |
| RS777818976 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779607772 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Maturity-onset diabetes of the young type 8, Inborn genetic diseases |
| RS780419796 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8 |
| RS868527871 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Maturity-onset diabetes of the young type 8, Inborn genetic diseases |
| RS193922638 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8 |
| RS2119062642 | Health Risk | Likely pathogenic | — |
| RS2490437710 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8 |
| RS778611627 | Health Risk | Likely pathogenic | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8 |
| RS2490436784 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 8, Maturity-onset diabetes of the young type 8 |