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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CLYBL
citramalyl-CoA lyase
Chromosome 13 · 13q32.3
NCBI Gene: 171425Ensembl: ENSG00000125246.17HGNC: HGNC:18355UniProt: Q8N0X4
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
magnesium ion bindingregulation of cobalamin metabolic processtoxic metabolite repairmitochondrionvitamin B deficiencyProteinurianeurodegenerative diseasethrombophilia
✦AI Summary

CLYBL (citramalyl-CoA lyase) is a mitochondrial enzyme that serves as a metabolic detoxification system, primarily protecting against vitamin B12-poisoning metabolites 12. The enzyme functions as a citramalyl-CoA lyase, converting citramalyl-CoA into acetyl-CoA and pyruvate in the C5-dicarboxylate catabolism pathway, which is essential for detoxifying itaconate, an antimicrobial metabolite that can inhibit B12-dependent enzymes 1. Additionally, CLYBL acts as a malyl-CoA thioesterase, removing malyl-CoA, a toxic side product of citric acid cycle enzymes that potently inhibits the B12-dependent methylmalonyl-CoA mutase 2. The enzyme also exhibits malate synthase activity, converting glyoxylate and acetyl-CoA to malate, and β-methylmalate synthase activity in vitro 3. CLYBL's clinical significance is evidenced by natural knockout variants in ~5% of humans, which are associated with reduced circulating vitamin B12 levels 31. Beyond metabolic functions, CLYBL plays regulatory roles in immune responses through acetylation-dependent mechanisms in macrophages 4 and tumor suppression in breast cancer 5. The gene serves as a genomic safe harbor for transgene integration in stem cell research 6.

Sources cited
1
CLYBL functions as citramalyl-CoA lyase in C5-dicarboxylate catabolism and itaconate detoxification
PMID: 29056341
2
CLYBL acts as malyl-CoA thioesterase to detoxify malyl-CoA, a potent inhibitor of B12-dependent enzymes
PMID: 40108300
3
CLYBL has malate synthase and β-methylmalate synthase activities, and ~5% of humans have knockout variants associated with reduced B12 levels
PMID: 24334609
4
CLYBL acetylation regulates macrophage metabolic reprogramming and inflammatory responses
PMID: 39863605
5
CLYBL acts as tumor suppressor in breast cancer through acetylation-dependent mechanisms
PMID: 40211376
6
CLYBL serves as genomic safe harbor for transgene integration in stem cells
PMID: 25587899
Disease Associationsⓘ20
vitamin B deficiencyOpen Targets
0.33Weak
ProteinuriaOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.31Weak
thrombophiliaOpen Targets
0.30Weak
facial morphologyOpen Targets
0.28Weak
paralytic strabismusOpen Targets
0.27Weak
inflammatory bowel diseaseOpen Targets
0.25Weak
multiple sclerosisOpen Targets
0.20Weak
spinal cord diseaseOpen Targets
0.18Weak
chronic rhinosinusitisOpen Targets
0.12Weak
asthmaOpen Targets
0.12Weak
breast cancerOpen Targets
0.07Suggestive
plasma fibronectin deficiencyOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
smoking initiationOpen Targets
0.05Suggestive
chronic lymphocytic leukemiaOpen Targets
0.05Suggestive
Hereditary persistence of alpha-fetoproteinOpen Targets
0.04Suggestive
smoking behaviorOpen Targets
0.04Suggestive
congenital lethal erythrodermaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SUGCTProtein interaction77%MAPDAShared pathway50%CDADC1Shared pathway33%ADKShared pathway25%STEAP4Shared pathway25%PGPShared pathway25%
Tissue Expression6 tissues
Liver
100%
Heart
46%
Brain
15%
Ovary
10%
Lung
9%
Bone Marrow
9%
Gene Interaction Network
Click a node to explore
CLYBLSUGCTMAPDACDADC1ADKSTEAP4PGP
PROTEIN STRUCTURE
Preparing viewer…
PDB5VXC · 1.87 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.19LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.63–1.19]
RankingsWhere CLYBL stands among ~20K protein-coding genes
  • #12,959of 20,598
    Most Researched25
  • #12,445of 17,882
    Most Constrained (LOEUF)1.19
Genes detectedCLYBL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Positive feedback loop involving AMPK and CLYBL acetylation links metabolic rewiring and inflammatory responses.
PMID: 39863605
Cell Death Dis · 2025
1.00
2
CLYBL is a polymorphic human enzyme with malate synthase and β-methylmalate synthase activity.
PMID: 24334609
Hum Mol Genet · 2014
0.90
3
The Human Knockout Gene CLYBL Connects Itaconate to Vitamin B
PMID: 29056341
Cell · 2017
0.80
4
Generation of AAVS1 and CLYBL STRAIGHT-IN v2 acceptor human iPSC lines for integrating DNA payloads.
PMID: 36495703
Stem Cell Res · 2023
0.70
5
Overcoming the Silencing of Doxycycline-Inducible Promoters in hiPSC-derived Cardiomyocytes.
PMID: 39926351
Open Res Eur · 2024
0.60