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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
OXCT2
3-oxoacid CoA-transferase 2
Chromosome 1 Β· 1p34.2
NCBI Gene: 64064Ensembl: ENSG00000198754.5HGNC: HGNC:18606UniProt: Q9BYC2
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionprotein bindingmotile ciliumketone body metabolic processneurodegenerative diseaseneuroinflammatory disorderhypertensionessential hypertension
✦AI Summary

OXCT2 (3-oxoacid CoA-transferase 2) is a mitochondrial enzyme that catalyzes the transfer of CoA from succinate to acetoacetate, functioning as a key enzyme in ketone body catabolism 1. The enzyme operates through formation of an unstable anhydride intermediate between carboxylate groups of the enzyme and substrate. OXCT2 exists as testicular isoforms (Oxct2a and Oxct2b) that are specifically expressed in haploid spermatids, where they facilitate ketolysis in mitochondria 1. These testicular isoforms are single-copy intronless genes derived from transposition of the ancestral OXCT gene, with evidence of intrachromosomal gene conversion events 1. Clinically, OXCT2 has emerged as a potential biomarker in two distinct contexts. In reproductive medicine, OXCT2 is upregulated in advanced-age spermatozoa (40-51 years), where it associates with age-related proteomic changes that contribute to declining male fertility and impaired spermatogenesis 2. In dermatology, OXCT2 was identified as a hub gene in alopecia areata pathogenesis through weighted gene co-expression network analysis and machine learning approaches, suggesting involvement in autoimmune hair follicle targeting 3. These findings indicate OXCT2's role extends beyond canonical ketone metabolism to include reproductive aging and immune-mediated disease processes.

Sources cited
1
OXCT2 is the rate-determining enzyme in ketolysis, has testicular isoforms (Oxct2a and Oxct2b) specifically expressed in haploid spermatids, is an intronless gene derived from OXCT transposition, and shows evolutionary conservation between mice and humans
PMID: 15028287
2
OXCT2 is uniquely upregulated in spermatozoa from advanced-age men (40-51 years) and is associated with age-related proteomic changes affecting spermatogenesis, motility, and metabolism
PMID: 40649876
3
OXCT2 is identified as a hub gene in alopecia areata pathogenesis through network analysis and machine learning, contributing to disease pathogenicity
PMID: 35983595
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.35Weak
hypertensionOpen Targets
0.23Weak
essential hypertensionOpen Targets
0.23Weak
diabetes mellitusOpen Targets
0.06Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.03Suggestive
sleep apneaOpen Targets
0.02Suggestive
hemorrhoidOpen Targets
0.02Suggestive
musculoskeletal system diseaseOpen Targets
0.02Suggestive
spondylolisthesisOpen Targets
0.02Suggestive
tooth diseaseOpen Targets
0.02Suggestive
irritable bowel syndromeOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
small cell lung carcinomaOpen Targets
0.01Suggestive
Aarskog-Scott syndrome, X-linkedOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
acute tonsillitisOpen Targets
0.00Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.00Suggestive
psoriasisOpen Targets
0.00Suggestive
male infertilityOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ACAA1Protein interaction96%ACAT1Protein interaction96%ACAT2Protein interaction96%BDH1Protein interaction96%EHHADHProtein interaction96%HADHBProtein interaction96%
Tissue Expression6 tissues
Ovary
100%
Heart
92%
Brain
72%
Liver
24%
Lung
16%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
OXCT2ACAA1ACAT1ACAT2BDH1EHHADHHADHB
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9BYC2
View on AlphaFold β†—
RankingsWhere OXCT2 stands among ~20K protein-coding genes
  • #15,336of 20,598
    Most Researched16
Genes detectedOXCT2
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Age-Associated Proteomic Changes in Human Spermatozoa.
PMID: 40649876
Int J Mol Sci Β· 2025
1.00
2
CHAC1 as a novel biomarker for distinguishing alopecia from other dermatological diseases and determining its severity.
PMID: 35983595
IET Syst Biol Β· 2022
0.67
3
Gene structure and evolution of testicular haploid germ cell-specific genes, Oxct2a and Oxct2b.
PMID: 15028287
Genomics Β· 2004
0.33