CS (Citrate Synthase) Gene
Mitochondrial Enzyme in the TCA Cycle
Gene Information Card
| Symbol | CS |
|---|---|
| Full Name | Citrate Synthase |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 1431 ncbi.nlm.nih.gov/gene/1431 |
| Ensembl ID | ENSG00000162426 |
| UniProt ID | O75390 |
| OMIM ID | 118950 |
| HGNC ID | 2422 |
| Aliases | CS, citrate synthase, mitochondrial |
Description
The CS gene encodes citrate synthase, a nuclear-encoded mitochondrial enzyme that catalyzes the first step of the tricarboxylic acid (TCA) cycle: the condensation of acetyl-CoA and oxaloacetate to form citrate. This enzyme is essential for cellular energy metabolism and is expressed ubiquitously.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Citrate synthase deficiency | Loss of enzyme activity leads to impaired TCA cycle and mitochondrial dysfunction | OMIM #118950; case reports of metabolic acidosis and encephalopathy |
| Mitochondrial encephalopathy | Reduced CS activity associated with neurological symptoms | ClinVar; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Heart | 18.3 | High |
| Brain | 10.1 | Medium |
| Skeletal Muscle | 15.7 | High |
| Kidney | 11.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 12.5 | Medium expression |
| HepG2 | 13.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Reduced enzyme activity |
| c.434C>T | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations reduce or abolish citrate synthase activity, impairing TCA cycle flux.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • citrate synthase activity | • mitochondrial matrix |
| • tricarboxylic acid cycle | • acetyl-CoA binding |
| • transferase activity |
Pathways
• TCA cycle (KEGG: hsa00020)
• Metabolic pathways (KEGG: hsa01100)
• Carbon metabolism (KEGG: hsa01200)
Protein Summary
Citrate synthase is a 49 kDa mitochondrial matrix enzyme that forms a homodimer. It catalyzes the condensation of acetyl-CoA and oxaloacetate to citrate, a key regulatory step in the TCA cycle. The enzyme is essential for aerobic respiration and is highly conserved across species.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSNK1A1L Knockout HEK293 Cell Line | EDJ-KQ288 | Human | 122011 | Details Get a Quote |
| CSF2 Knockout HEK293 Cell Line | EDJ-KQ455 | Human | 1437 | Details Get a Quote |
| CSF2RB Knockout HEK293 Cell Line | EDJ-KQ456 | Human | 1439 | Details Get a Quote |
| CSF3 Knockout HEK293 Cell Line | EDJ-KQ457 | Human | 1440 | Details Get a Quote |
| CSNK2A2 Knockout HEK293 Cell Line | EDJ-KQ557 | Human | 1459 | Details Get a Quote |
| CSF1 Knockout HEK293 Cell Line | EDJ-KQ636 | Human | 1435 | Details Get a Quote |
| CSNK1G1 Knockout HEK293 Cell Line | EDJ-KQ886 | Human | 53944 | Details Get a Quote |
| CSNK1G2 Knockout HEK293 Cell Line | EDJ-KQ887 | Human | 1455 | Details Get a Quote |
| CSNK1G3 Knockout HEK293 Cell Line | EDJ-KQ888 | Human | 1456 | Details Get a Quote |
| CSNK1D Knockout HEK293 Cell Line | EDJ-KQ1391 | Human | 1453 | Details Get a Quote |
| TPTEP2-CSNK1E Knockout HEK293 Cell Line | EDJ-KQ1392 | Human | 102800317 | Details Get a Quote |
| CSPG4 Knockout HEK293 Cell Line | EDJ-KQ1941 | Human | 1464 | Details Get a Quote |
| CSMD2 Knockout HEK293 Cell Line | EDJ-KQ2126 | Human | 114784 | Details Get a Quote |
| CSPP1 Knockout HEK293 Cell Line | EDJ-KQ2222 | Human | 79848 | Details Get a Quote |
| CSRP1 Knockout HEK293 Cell Line | EDJ-KQ2387 | Human | 1465 | Details Get a Quote |
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