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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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OXA1L
OXA1L mitochondrial inner membrane insertase
Chromosome 14 · 14q11.2
NCBI Gene: 5018Ensembl: ENSG00000155463.14HGNC: HGNC:8526UniProt: J3KNA0
76PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmembrane insertase activityprotein homodimerization activitymitochondrial ribosome bindingmitochondrial diseaselysinuric protein intoleranceprostate cancermyoepithelial tumor
✦AI Summary

OXA1L is a mitochondrial inner membrane insertase that mediates the cotranslational insertion of integral membrane proteins into the mitochondrial inner membrane 1. The protein functions through three distinct contact sites with mitochondrial ribosomes, facilitating the delivery of newly synthesized polypeptides through conformational changes that create constriction sites in the ribosomal exit tunnel 1. OXA1L is essential for the biogenesis and assembly of key respiratory complexes, with knockdown studies demonstrating its requirement for F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase (complex I) assembly and activity 2. The protein exists as part of a 600-700 kDa complex and its C-terminal tail binds to mitochondrial ribosomes with high affinity to enable cotranslational protein insertion 3. Clinically, OXA1L deficiency causes mitochondrial myopathy through combined respiratory chain defects and oxidative phosphorylation impairments 4. The pathogenic mechanism involves elevated reactive oxygen species production that activates nuclear factor kappa B signaling, leading to disturbed myogenic gene expression and cell apoptosis 4. Additionally, genetic variants in OXA1L have been associated with asthma and atopy in population studies 5.

Sources cited
1
OXA1L mediates cotranslational insertion through three contact sites with mitochondrial ribosomes and creates conformational changes
PMID: 33602856
2
OXA1L is required for F1Fo-ATP synthase and complex I biogenesis and activity
PMID: 17936786
3
OXA1L C-terminal tail binds mitochondrial ribosomes with high affinity for cotranslational insertion
PMID: 20601428
4
OXA1L deficiency causes mitochondrial myopathy through respiratory chain defects and ROS-mediated NF-κB signaling
PMID: 40551575
5
OXA1L variants are associated with asthma and atopy in population studies
PMID: 30032071
Disease Associationsⓘ20
mitochondrial diseaseOpen Targets
0.42Moderate
lysinuric protein intoleranceOpen Targets
0.33Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
myoepithelial tumorOpen Targets
0.11Weak
alcohol drinkingOpen Targets
0.05Suggestive
exostosisOpen Targets
0.05Suggestive
Duane retraction syndromeOpen Targets
0.04Suggestive
cervical carcinomaOpen Targets
0.04Suggestive
dementiaOpen Targets
0.03Suggestive
post term pregnancyOpen Targets
0.03Suggestive
Mitochondrial myopathyOpen Targets
0.03Suggestive
ovarian dysfunctionOpen Targets
0.03Suggestive
gastroparesisOpen Targets
0.03Suggestive
asthmaOpen Targets
0.03Suggestive
sialolithiasisOpen Targets
0.02Suggestive
skin diseaseOpen Targets
0.02Suggestive
Dupuytren ContractureOpen Targets
0.02Suggestive
gram-positive bacterial infectionsOpen Targets
0.02Suggestive
benign prostatic hyperplasiaOpen Targets
0.02Suggestive
Pathogenic Variants2
NM_005015.5(OXA1L):c.320_327dup (p.Ser110fs)Pathogenic
Mitochondrial disease
☆☆☆☆2018→ Residue 110
NM_005015.5(OXA1L):c.440G>T (p.Cys147Phe)Pathogenic
Mitochondrial disease
☆☆☆☆2018→ Residue 147
View on ClinVar ↗
Related Genes
MRPL9Protein interaction100%MRPL19Protein interaction100%MRPL27Protein interaction100%MRPL22Protein interaction100%MRPL20Protein interaction100%MRPS16Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
94%
Lung
65%
Bone Marrow
61%
Ovary
52%
Brain
28%
Gene Interaction Network
Click a node to explore
OXA1LMRPL9MRPL19MRPL27MRPL22MRPL20MRPS16
PROTEIN STRUCTURE
Preparing viewer…
PDB6ZM5 · 2.89 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.02LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.60–1.02]
RankingsWhere OXA1L stands among ~20K protein-coding genes
  • #6,272of 20,598
    Most Researched76
  • #4,367of 5,498
    Most Pathogenic Variants2
  • #10,044of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedOXA1L
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Mechanism of membrane-tethered mitochondrial protein synthesis.
PMID: 33602856
Science · 2021
1.00
2
Elongational stalling activates mitoribosome-associated quality control.
PMID: 33243891
Science · 2020
0.90
3
Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase.
PMID: 17936786
J Mol Biol · 2007
0.80
4
Sequence and structure of the human OXA1L gene and its upstream elements.
PMID: 9247084
Biochim Biophys Acta · 1997
0.70
5
Mitochondrial protein synthesis quality control.
PMID: 38280230
Hum Mol Genet · 2024
0.60