HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 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.
PC
pyruvate carboxylase
Chromosome 11 Β· 11q13.2
NCBI Gene: 5091Ensembl: ENSG00000173599.16HGNC: HGNC:8636UniProt: P11498
169PubMed Papers
21Diseases
0Drugs
180Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmviral RNA genome packagingviral release from host cellNAD+ metabolic processpyruvate carboxylase deficiency diseaseCongenital lactic acidosispyruvate carboxylase deficiency, infantile formpyruvate carboxylase deficiency, severe neonatal type
✦AI Summary

Pyruvate carboxylase (PC) is a mitochondrial enzyme that catalyzes the ATP-dependent carboxylation of biotin followed by carboxyl group transfer to pyruvate, functioning as a critical anaplerotic enzyme. The enzyme operates in a tissue-specific manner, initiating glucose synthesis in liver and kidney, and lipid synthesis in adipose tissue, liver, and brain. PC catalyzes the first committed step of gluconeogenesis and lipogenesis pathways, linking pyruvate metabolism to biosynthetic processes. Deficiency of PC results in pyruvate carboxylase deficiency, a rare genetic disorder affecting metabolic homeostasis. The enzyme's biotin-dependent mechanism and its role in maintaining cytosolic and mitochondrial NAD(P)+ pools underscore its fundamental importance in cellular energy metabolism and anabolic biosynthesis. Although the provided abstracts do not contain specific mechanistic or clinical data on PC function and disease, the disorder represents a significant metabolic complication when enzymatic activity is impaired, affecting glucose and lipid homeostasis across multiple tissues.

Sources cited
1
Gene function summary based on UniProt and NCBI annotations; no supporting PubMed abstracts available for pyruvate carboxylase enzyme function or pyruvate carboxylase deficiency
PMID: N/A
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
pyruvate carboxylase deficiency diseaseOpen Targets
0.82Strong
Congenital lactic acidosisOpen Targets
0.42Moderate
pyruvate carboxylase deficiency, infantile formOpen Targets
0.37Weak
pyruvate carboxylase deficiency, benign typeOpen Targets
0.37Weak
pyruvate carboxylase deficiency, severe neonatal typeOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.34Weak
ocular hypotensionOpen Targets
0.32Weak
thrombophilia due to protein C deficiency, autosomal dominantOpen Targets
0.27Weak
thrombophilia due to protein C deficiency, autosomal recessiveOpen Targets
0.27Weak
exostosisOpen Targets
0.25Weak
Abnormality of the skeletal systemOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
diabetes mellitusOpen Targets
0.15Weak
type 2 diabetes mellitusOpen Targets
0.14Weak
insomniaOpen Targets
0.13Weak
osteoarthritis, hipOpen Targets
0.05Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
papillary thyroid carcinomaOpen Targets
0.03Suggestive
Pyruvate carboxylase deficiencyUniProt
Pathogenic Variants180
NM_001040716.2(PC):c.1639C>T (p.Arg547Ter)Pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 547
NM_001040716.2(PC):c.1826-1G>CLikely pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2025
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)Pathogenic
Pyruvate carboxylase deficiency|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 631
NM_001040716.2(PC):c.1712_1728del (p.Arg571fs)Pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 571
NM_001040716.2(PC):c.1368+1G>ALikely pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024
NM_001040716.2(PC):c.3387del (p.Lys1130fs)Pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 1130
NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)Likely pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 451
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp)Likely pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 812
NM_001040716.2(PC):c.280C>T (p.Gln94Ter)Likely pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 94
NM_001040716.2(PC):c.2971G>T (p.Glu991Ter)Likely pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 991
NM_001040716.2(PC):c.2473+2_2473+5delPathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024
NM_001040716.2(PC):c.1663C>T (p.Arg555Ter)Pathogenic
Pyruvate carboxylase deficiency|Pyruvate carboxylase deficiency;Thrombophilia due to protein C deficiency, autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive
β˜…β˜…β˜†β˜†2024β†’ Residue 555
NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)Pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 610
NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)Pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 831
NM_001040716.2(PC):c.633+2T>CLikely pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024
NM_001040716.2(PC):c.1983-116C>TLikely pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024
NM_001040716.2(PC):c.1980del (p.Phe660fs)Pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 660
NM_001040716.2(PC):c.3409_3410del (p.Leu1137fs)Pathogenic
Pyruvate carboxylase deficiency|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1137
NM_001040716.2(PC):c.52C>T (p.Arg18Ter)Pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2023β†’ Residue 18
NM_001040716.2(PC):c.908del (p.Gly303fs)Pathogenic
Pyruvate carboxylase deficiency
β˜…β˜…β˜†β˜†2023β†’ Residue 303
View on ClinVar β†—
Related Genes
ASLProtein interaction99%DLATProtein interaction99%FBP1Protein interaction99%G6PC1Protein interaction99%GLUD1Protein interaction99%GLUD2Protein interaction99%
Tissue Expression6 tissues
Liver
100%
Brain
10%
Bone Marrow
4%
Ovary
3%
Heart
3%
Lung
1%
Gene Interaction Network
Click a node to explore
PCASLDLATFBP1G6PC1GLUD1GLUD2
PROTEIN STRUCTURE
Preparing viewer…
PDB8XL9 Β· 2.61 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.54Moderately Constrained
pLIβ“˜
0.07Tolerant
Observed/Expected LoF0.42 [0.33–0.54]
RankingsWhere PC stands among ~20K protein-coding genes
  • #2,630of 20,598
    Most Researched169 Β· top quartile
  • #398of 5,498
    Most Pathogenic Variants180 Β· top 10%
  • #3,398of 17,882
    Most Constrained (LOEUF)0.54 Β· top quartile
Genes detectedPC
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
[Blood--a special resource].
PMID: 22763606
Anasthesiol Intensivmed Notfallmed Schmerzther Β· 2012
1.00
2
[Pancreatic cancer risk: alcoholic and non-alcoholic beverages].
PMID: 36286749
Ter Arkh Β· 2022
0.92
3
Palliative Care for Parkinson Disease.
PMID: 31733696
Clin Geriatr Med Β· 2020
0.90
4
PC-FACS.
PMID: 22464356
J Pain Symptom Manage Β· 2012
0.80
5
Activated protein C ameliorates diabetes-induced atherosclerosis by sustaining macrophage efferocytosis.
PMID: 41083981
Cardiovasc Diabetol Β· 2025
0.70