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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CS
citrate synthase
Chromosome 12 · 12q13.3
NCBI Gene: 1431Ensembl: ENSG00000062485.20HGNC: HGNC:2422UniProt: O75390
147PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusextracellular exosomeidentical protein bindingcitrate synthase activityneurodegenerative diseaseneuroinflammatory disorderpsoriasispsoriasis vulgaris
✦AI Summary

Citrate synthase (CS) is a key mitochondrial enzyme catalyzing the first committed step of the tricarboxylic acid (TCA) cycle, condensing acetyl-CoA and oxaloacetate to form citrate. Located in the mitochondrial matrix, CS plays a central role in aerobic energy metabolism and carbohydrate metabolism [GO annotations]. The enzyme's function is critical for cellular respiration and ATP production, particularly under conditions requiring oxidative phosphorylation. CS expression and activity can be modulated to shift cellular metabolism from glycolysis toward mitochondrial respiration 1, which has therapeutic implications for cancer treatment strategies including cuproptosis sensitization. In this context, increasing CS-mediated TCA cycle flux depletes endogenous antioxidants and sensitizes tumor cells to copper-induced cell death 1. Beyond its canonical metabolic role, CS localizes to both mitochondria and the nucleus [GO annotations], suggesting potential regulatory functions beyond energetics. CS also exhibits RNA-binding capacity [GO annotations], indicating broader cellular roles. Clinical significance includes metabolic reprogramming in cancer therapy, where enhancing mitochondrial respiration through CS-dependent pathways represents an emerging strategy to overcome resistance mechanisms in malignancies.

Sources cited
1
CS expression/activity can shift cellular metabolism from glycolysis to mitochondrial respiration, with therapeutic relevance for cuproptosis-based cancer treatment
PMID: 40495637
⚠Limited data available — This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.39Weak
neuroinflammatory disorderOpen Targets
0.25Weak
psoriasisOpen Targets
0.18Weak
psoriasis vulgarisOpen Targets
0.11Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.10Weak
deafnessOpen Targets
0.10Suggestive
hearing loss, autosomal recessiveOpen Targets
0.10Suggestive
atrial fibrillationOpen Targets
0.09Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.08Suggestive
coronary artery diseaseOpen Targets
0.08Suggestive
auditory neuropathy, autosomal dominant 3Open Targets
0.08Suggestive
autosomal recessive nonsyndromic hearing loss 1BOpen Targets
0.08Suggestive
autosomal dominant nonsyndromic hearing loss 65Open Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
autosomal dominant nonsyndromic hearing loss 17Open Targets
0.07Suggestive
autosomal dominant nonsyndromic hearing loss 7Open Targets
0.07Suggestive
autosomal recessive nonsyndromic hearing loss 102Open Targets
0.07Suggestive
deafness, aminoglycoside-inducedOpen Targets
0.07Suggestive
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposureOpen Targets
0.07Suggestive
hearing loss, autosomal dominant 88Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACO1Protein interaction100%DLSTProtein interaction100%OGDHProtein interaction100%PDHBProtein interaction100%PDHXProtein interaction100%FXNProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
37%
Lung
27%
Bone Marrow
24%
Ovary
18%
Liver
18%
Gene Interaction Network
Click a node to explore
CSACO1DLSTOGDHPDHBPDHXFXN
PROTEIN STRUCTURE
Preparing viewer…
PDB8ZVV · 1.59 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.14–0.36]
RankingsWhere CS stands among ~20K protein-coding genes
  • #3,083of 20,598
    Most Researched147 · top quartile
  • #1,579of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedCS
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A PROTAC-Based Cuproptosis Sensitizer in Lung Cancer Therapy.
PMID: 40495637
Adv Mater · 2025
1.00
2
Chitosan/gelatin scaffolds support bone regeneration.
PMID: 29730855
J Mater Sci Mater Med · 2018
0.90
3
Review of the Syntheses and Activities of Some Sulfur-Containing Drugs.
PMID: 32091342
Curr Org Synth · 2020
0.80
4
Regioisomer-manipulating thio-perylenediimide nanoagents for photothermal/photodynamic theranostics.
PMID: 32495813
J Mater Chem B · 2020
0.70
5
A role for ultrasound in the fabrication of carbohydrate-supported nanomaterials.
PMID: 30811013
J Ultrasound · 2019
0.60