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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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OVCH1
ovochymase 1
Chromosome 12 · 12p11.22
NCBI Gene: 341350
6PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
serine-type endopeptidase activityproteolysisfertilizationextracellular region
✦AI Summary

OVCH1 (ovochymase 1) is a gene located on chromosome 12 whose function remains incompletely characterized, though recent evidence suggests involvement in immune and inflammatory processes. An intronic OVCH1 variant (rs10492374) was identified as a novel susceptibility locus for HLA-B*08:01-positive early-onset myasthenia gravis (EOMG), with heterozygous carriers showing increased OVCH1 gene expression 1. The gene's antisense RNA, OVCH1-AS1, shows differential expression patterns across multiple pathophysiological contexts. In Turner syndrome (monosomy X), OVCH1-AS1 expression is consistently elevated across fetal tissues and placenta, suggesting a potential compensatory response to X chromosome 12 2. OVCH1-AS1 is also differentially expressed between frail and non-frail older adults, with implications for age-related loss of homeostasis and frailty development 3. Additionally, OVCH1-AS1 functions as a disulfidptosis-related long noncoding RNA with prognostic significance in kidney renal clear cell carcinoma, where it contributes to a biomarker signature predicting patient outcomes and immunotherapy response 4. A rare OVCH1 variant was identified in familial Ménière's disease, though the specific pathogenic mechanism remains unclear 5. These findings suggest OVCH1 and its antisense transcript participate in immune regulation, age-related pathology, and cancer progression, though direct protein function requires further investigation.

Sources cited
1
OVCH1 intronic variant rs10492374 is associated with HLA-B*08:01-positive early-onset myasthenia gravis; heterozygous carriers show increased OVCH1 expression
PMID: 29037440
2
OVCH1-AS1 (antisense RNA) shows higher expression in all monosomy X (45,X) fetal tissues and placenta compared to controls
PMID: 39956831
3
OVCH1 Antisense RNA 1 is differentially expressed between non-frail and frail older adults; differential expression patterns suggest involvement in age-related homeostasis
PMID: 37817005
4
OVCH1-AS1 is a disulfidptosis-related long noncoding RNA with prognostic significance in kidney renal clear cell carcinoma
PMID: 39175011
5
A rare OVCH1 variant co-segregates with familial Ménière's disease in one family
PMID: 35741759
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
OVCH2Shared pathway100%PGA4Shared pathway50%PGA3Shared pathway50%CAPN14Shared pathway50%CTRB2Shared pathway50%CAPN8Shared pathway50%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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OVCH1OVCH2PGA4PGA3CAPN14CTRB2CAPN8
PROTEIN STRUCTURE
?
No structure data available
Structures require a reviewed Swiss-Prot entry.
RankingsWhere OVCH1 stands among ~20K protein-coding genes
  • #18,176of 20,598
    Most Researched6
Genes detectedOVCH1
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Novel genetic loci associated HLA-B*08:01 positive myasthenia gravis.
PMID: 29037440
J Autoimmun · 2018
1.00
2
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.
PMID: 39956831
Commun Biol · 2025
0.80
3
New Genetic Variants in
PMID: 35741759
Genes (Basel) · 2022
0.60
4
OVCH1 Antisense RNA 1 is differentially expressed between non-frail and frail old adults.
PMID: 37817005
Geroscience · 2024
0.40
5
Disulfidptosis-associated LncRNA signature predicts prognosis and immune response in kidney renal clear cell carcinoma.
PMID: 39175011
Biol Direct · 2024
0.20