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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CEL
carboxyl ester lipase
Chromosome 9 Β· 9q34.13
NCBI Gene: 1056Ensembl: ENSG00000170835.17HGNC: HGNC:1848UniProt: B4DSX9
95PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intestinal cholesterol absorptionextracellular exosomeGO:0005615protein bindingMODYneurodegenerative diseasematurity-onset diabetes of the younggenetic disorder
✦AI Summary

Insufficient information provided. The PubMed abstracts supplied do not contain relevant data about CEL (carboxyl ester lipase) gene function. The abstracts discuss clinical trials for CAR-T cell therapies (exagamglogene autotemcel, lisocabtagene maraleucel, satricabtagene autoleucel), anti-inflammatory compound celastrol, hypereosinophilic syndrome variants, and sepsis treatmentβ€”none of which address CEL enzyme biology, lipid hydrolysis, or intestinal lipid absorption. To provide an accurate summary grounded in the provided sources, abstracts specifically discussing CEL's catalytic mechanisms, substrate specificity, or disease associations (particularly maturity-onset diabetes of the young 8) would be required. The UniProt functional annotations describing CEL's hydrolysis of cholesteryl esters, phospholipids, and fatty acid esters, along with its role in dietary lipid digestion and fat-soluble vitamin absorption, cannot be cited to the provided abstracts.

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
MODYOpen Targets
0.69Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
maturity-onset diabetes of the youngOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
hereditary chronic pancreatitisOpen Targets
0.18Weak
monogenic diabetesOpen Targets
0.15Weak
type 2 diabetes mellitusOpen Targets
0.12Weak
arthritisOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.04Suggestive
pituitary cancerOpen Targets
0.04Suggestive
mucous membrane pemphigoidOpen Targets
0.04Suggestive
chronic myelogenous leukemiaOpen Targets
0.04Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.03Suggestive
liver cancerOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
clear cell renal carcinomaOpen Targets
0.03Suggestive
psoriatic arthritisOpen Targets
0.03Suggestive
colorectal adenocarcinomaOpen Targets
0.03Suggestive
disorder of visual systemOpen Targets
0.03Suggestive
Maturity-onset diabetes of the young 8 with exocrine dysfunctionUniProt
Pathogenic Variants6
NM_001807.6(CEL):c.1776del (p.Val593fs)Likely pathogenic
Maturity-onset diabetes of the young type 8
β˜…β˜…β˜†β˜†2020β†’ Residue 593
NM_001807.6(CEL):c.703C>T (p.Arg235Ter)Likely pathogenic
Maturity-onset diabetes of the young type 8
β˜…β˜†β˜†β˜†2024β†’ Residue 235
NM_001807.6(CEL):c.2139dup (p.Val714fs)Likely pathogenic
Maturity-onset diabetes of the young type 8
β˜…β˜†β˜†β˜†2024β†’ Residue 714
NM_001807.6(CEL):c.1875del (p.Val626fs)Likely pathogenic
Maturity-onset diabetes of the young type 8
β˜…β˜†β˜†β˜†2022β†’ Residue 626
NM_001807.6(CEL):c.615_618delinsAAA (p.Asn206fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 206
NM_001807.6(CEL):c.1677del (p.Val560fs)Pathogenic
Maturity-onset diabetes of the young type 8
β˜†β˜†β˜†β˜†2006β†’ Residue 560
View on ClinVar β†—
Related Genes
ARF1Protein interaction100%CELA3AProtein interaction99%PXDNLProtein interaction98%CTRB1Protein interaction97%CELA3BProtein interaction97%CPB1Protein interaction97%
Tissue Expression6 tissues
Ovary
100%
Liver
68%
Heart
21%
Lung
20%
Bone Marrow
19%
Brain
7%
Gene Interaction Network
Click a node to explore
CELARF1CELA3APXDNLCTRB1CELA3BCPB1
PROTEIN STRUCTURE
Preparing viewer…
PDB6H1A Β· 1.75 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.74 [0.57–0.97]
RankingsWhere CEL stands among ~20K protein-coding genes
  • #5,021of 20,598
    Most Researched95 Β· top quartile
  • #3,345of 5,498
    Most Pathogenic Variants6
  • #9,230of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedCEL
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Exagamglogene Autotemcel for Severe Sickle Cell Disease.
PMID: 38661449
N Engl J Med Β· 2024
1.00
2
Celastrol mitigates inflammation in sepsis by inhibiting the PKM2-dependent Warburg effect.
PMID: 35596191
Mil Med Res Β· 2022
0.90
3
Lisocabtagene maraleucel as second-line therapy for large B-cell lymphoma: primary analysis of the phase 3 TRANSFORM study.
PMID: 36542826
Blood Β· 2023
0.80
4
Claudin18.2-specific CAR T cells in gastrointestinal cancers: phase 1 trial final results.
PMID: 38830992
Nat Med Β· 2024
0.70
5
Glutathione-Scavenging Celastrol-Cu Nanoparticles Induce Self-Amplified Cuproptosis for Augmented Cancer Immunotherapy.
PMID: 38935977
Adv Mater Β· 2024
0.60