Carboxyl-Ester Lipase

Alternative Names

  • CEL
  • Carboxyl-Ester Hydrolase
  • Cholesterol Esterase
  • Lysophospholipase
  • Bile Salt-Stimulated Lipase
  • BSSL
  • Bile Salt-Dependent Lipase
  • BSDL
  • Bile Salt-Dependent Lipase, Oncofetal Isoform, Included
  • Fetoacinar Pancreatic Protein, Included
  • FAPP, Included
  • FAP, Included
  • Carboxyl-Ester Lipase-Like, Included
  • Cell, Included
  • Carboxyl-Ester Lipase Pseudogene, Included
  • CELP, Included

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

114840

NCBI Gene ID

1056

Uniprot ID

P19835

Length

9,881 bases

No. of Exons

11

No. of isoforms

2

Protein Name

Bile salt-activated lipase

Molecular Mass

79322 Da

Amino Acid Count

753

Genomic Location

chr9:133,061,981-133,071,861

Gene Map Locus
9q34.13

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001807.6:c.1114A>GQatarNC_000009.12:g.133069087A>GUncertain SignificanceType 2 Diabetes MellitusNG_016394.1:g.12110A>G; NM_001807.6:c.1114A>G; NP_001798.3:p.Thr372Ala1830226668
NM_001807.6:c.1390G>AQatarNC_000009.12:g.133070564G>AUncertain SignificanceType 2 Diabetes MellitusNG_016394.1:g.13587G>A; NM_001807.6:c.1390G>A; NP_001798.3:p.Gly464Arg766487195
NM_001807.6:c.720C>GQatarNC_000009.12:g.133066888C>GUncertain SignificanceType 2 Diabetes MellitusNG_016394.1:g.9911C>G; NM_001807.6:c.720C>G; NP_001798.3:p.Ser240Arg
NM_001807.6:c.76G>AQatarNC_000009.12:g.133064413G>AUncertain SignificanceType 2 Diabetes MellitusNG_016394.1:g.7436G>A; NM_001807.6:c.76G>A; NP_001798.3:p.Val26Met748643667
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