CEL
Chr 9ADcarboxyl ester lipase
Also known as: BAL, BSDL, BSSL, CELL, CEase, FAP, FAPP, MODY8
The protein functions as a pancreatic lipase that catalyzes hydrolysis of cholesteryl esters, phospholipids, and other lipid substrates, playing an essential role in dietary lipid digestion and fat-soluble vitamin absorption. Mutations cause maturity-onset diabetes of the young type VIII (MODY8), inherited in an autosomal dominant pattern. This gene shows very low constraint against loss-of-function variants (pLI near 0), suggesting haploinsufficiency may not be the primary disease mechanism.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CEL · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Gene Correction in Autologous CD34+ Hematopoietic Stem Cells (HbS to HbA) to Treat Severe Sickle Cell Disease
RECRUITINGMyeloproliferative Neoplasms (MPNs) Patient Registry
RECRUITINGLong-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials
RECRUITINGEfficacy and Safety Comparison of Niraparib to Placebo in Participants With Human Epidermal Growth Factor 2 Negative (HER2-) Breast Cancer Susceptibility Gene Mutation (BRCAmut) or Triple-Negative Breast Cancer (TNBC) With Molecular Disease
ACTIVE NOT RECRUITINGStudy to Evaluate Safety and Antitumor Activity of Lete-Cel (GSK3377794) in HLA-A2+ Participants With NY-ESO-1 Positive Previously Treated Advanced (Metastatic or Unresectable) Synovial Sarcoma or Myxoid/Round Cell Liposarcoma
ACTIVE NOT RECRUITINGA Study of ANAVEX3-71 in Adults With Schizophrenia
ACTIVE NOT RECRUITINGA Study Evaluating Gene Therapy With BB305 Lentiviral Vector in Sickle Cell Disease
ACTIVE NOT RECRUITINGZanubrutinib and Lisocabtagene Maraleucel for the Treatment of Richter's Syndrome
RECRUITINGA Prospective Evaluation of the Peri-operative Hypoxia in Breast Cancer
RECRUITINGMaster Protocol to Assess the Safety and Antitumor Activity of Genetically Engineered T Cells in NY-ESO-1 and/or LAGE-1a Positive Solid Tumors
ACTIVE NOT RECRUITINGGenotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients
RECRUITINGThe Link Between Physical Activity and Brain Health in Healthy Adults
RECRUITINGExternal Resources
Links to major genomics databases and tools