HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
APOO
apolipoprotein O
Chromosome X · Xp22.11
NCBI Gene: 79135Ensembl: ENSG00000184831.15HGNC: HGNC:28727UniProt: Q9BUR5
43PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingendoplasmic reticulum membraneSAM complexMICOS complexlactic acidosisX-linked recessive mitochondrial myopathyHyperglycemiahemochromatosis type 5
✦AI Summary

APOO (apolipoprotein O) serves as a crucial component of the mitochondrial MICOS complex, playing essential roles in mitochondrial cristae junction formation and inner membrane architecture 12. The protein functions both intracellularly as a mitochondrial component and extracellularly in lipid metabolism. Within mitochondria, APOO localizes to the inner membrane where it maintains cristae morphology and promotes mitochondrial respiration and fatty acid metabolism 3. Loss-of-function mutations in APOO cause severe mitochondrial diseases characterized by impaired cristae architecture, developmental delay, and neuromuscular dysfunction 24. In lipid metabolism, APOO regulates plasma cholesterol levels through an NRF2/CYB5R3 pathway that controls cholesterol excretion via bile and feces, independent of the LDL receptor 5. The protein also promotes cholesterol efflux from macrophages and is secreted in association with lipoproteins 6. Clinically, APOO expression is elevated in diabetic cardiomyopathy and myocardial infarction, where it contributes to cardiac lipotoxicity and activates autophagy through p38MAPK signaling 37. Pathogenic variants cause lethal mitochondrial disorders with progeria-like features, highlighting APOO's critical role in cellular energy metabolism and disease pathogenesis.

Sources cited
1
APOO is a component of the MICOS complex involved in cristae junction formation and mitochondrial architecture
PMID: 24391192
2
Loss-of-function APOO mutations cause mitochondrial disease with neuromuscular dysfunction and impaired MICOS assembly
PMID: 32439808
3
APOO localizes to mitochondria and promotes mitochondrial respiration, fatty acid metabolism, and cardiac lipotoxicity
PMID: 24743151
4
Pathogenic APOO variants cause lethal mitochondrial disease with progeria-like phenotypes
PMID: 37649161
5
APOO regulates plasma cholesterol levels through NRF2/CYB5R3 pathway independent of LDL receptor
PMID: 38830896
6
APOO is a component of HDL that can bind free fatty acids and regulate lipoprotein metabolism
PMID: 35575917
7
APOO expression is elevated in myocardial infarction and activates autophagy through p38MAPK signaling
PMID: 35588578
Disease Associationsⓘ20
lactic acidosisOpen Targets
0.34Weak
X-linked recessive mitochondrial myopathyOpen Targets
0.34Weak
HyperglycemiaOpen Targets
0.08Suggestive
FTH1-related iron overloadOpen Targets
0.04Suggestive
hemochromatosis type 5Open Targets
0.04Suggestive
isolated hyperferritinemiaOpen Targets
0.04Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.04Suggestive
familial isolated hyperparathyroidismOpen Targets
0.03Suggestive
hyperparathyroidismOpen Targets
0.03Suggestive
atherosclerosisOpen Targets
0.02Suggestive
autoimmune thrombocytopenic purpuraOpen Targets
0.02Suggestive
Cognitive impairmentOpen Targets
0.02Suggestive
Mitochondrial myopathyOpen Targets
0.02Suggestive
liver dysplastic noduleOpen Targets
0.01Suggestive
myocardial infarctionOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
Alzheimer diseaseOpen Targets
0.01Suggestive
obesityOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
Pathogenic Variants1
NM_024122.5(APOO):c.350T>C (p.Ile117Thr)Pathogenic
Cognitive impairment and autistic features;X-­linked recessive mitochondrial myopathy;Lactic acidosis|not provided
★☆☆☆2020→ Residue 117
View on ClinVar ↗
Related Genes
TOMM5Protein interaction100%TOMM20Protein interaction100%APOA1Protein interaction99%CHCHD10Protein interaction99%MTX3Protein interaction92%HSPA9Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Brain
83%
Liver
20%
Bone Marrow
14%
Ovary
12%
Lung
10%
Gene Interaction Network
Click a node to explore
APOOTOMM5TOMM20APOA1CHCHD10MTX3HSPA9
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BUR5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF0.48 [0.30–0.79]
RankingsWhere APOO stands among ~20K protein-coding genes
  • #9,688of 20,598
    Most Researched43
  • #5,138of 5,498
    Most Pathogenic Variants1
  • #6,477of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedAPOO
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Apolipoprotein O modulates cholesterol metabolism via NRF2/CYB5R3 independent of LDL receptor.
PMID: 38830896
Cell Death Dis · 2024
1.00
2
HDL Structure.
PMID: 35575917
Adv Exp Med Biol · 2022
0.90
3
Mutation in the MICOS subunit gene
PMID: 32439808
J Med Genet · 2021
0.80
4
Novel intracellular functions of apolipoproteins: the ApoO protein family as constituents of the Mitofilin/MINOS complex determines cristae morphology in mitochondria.
PMID: 24391192
Biol Chem · 2014
0.70
5
Microarray analysis provides new insights into the function of apolipoprotein O in HepG2 cell line.
PMID: 24341743
Lipids Health Dis · 2013
0.60