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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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BOLA3
bolA family member 3
Chromosome 2 Β· 2p13.1
NCBI Gene: 388962Ensembl: ENSG00000163170.13HGNC: HGNC:24415UniProt: Q53S33
33PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmitochondrionprotein maturationmitochondrial matrixmultiple mitochondrial dysfunctions syndrome 2Fatal multiple mitochondrial dysfunction syndrome type 2Fatal multiple mitochondrial dysfunction syndromemitochondrial disease
✦AI Summary

BOLA3 (bolA family member 3) is a mitochondrial iron-sulfur (Fe-S) cluster assembly factor that facilitates the insertion of Fe-S clusters into mitochondrial proteins 1. BOLA3 functions as a [2Fe-2S] cluster-binding protein that forms heteromeric complexes with glutaredoxin GRX5 and works alongside NFU1 to deliver [4Fe-4S] clusters to specific substrates 23. The protein plays a critical role in incorporating Fe-S clusters into mitochondrial respiratory chain complexes I and II, lipoic acid synthetase, and the mitoribosome 43. Pathogenic BOLA3 variants cause Multiple Mitochondrial Dysfunctions Syndrome 2 with hyperglycinemia (MMDS2), characterized by life-threatening lactic acidosis, nonketotic hyperglycinemia, and hypertrophic cardiomyopathy 4. Disease manifestations result from impaired Fe-S cluster delivery to respiratory complexes and lipoic acid-dependent enzymes, causing metabolic disruption and reduced mitochondrial protein synthesis 43. Beyond primary mitochondrial disease, BOLA3 expression associates with beige adipocyte thermogenesis and immune-related prognosis in lung adenocarcinoma 56. Therapeutically, targeting the Fe-S cluster assembly pathway rather than downstream metabolic effects may provide more effective treatment for BOLA3 deficiency 4.

Sources cited
1
BOLA3 forms functional homodimers and heteromeric complexes capable of Fe-S cluster binding and trafficking
PMID: 31486956
2
BOLA3 forms [2Fe-2S] cluster-bridged dimeric heterocomplexes with GRX5 and coordinates oxidized ferredoxin-like clusters
PMID: 28483642
3
BOLA3 delivers [4Fe-4S] clusters to respiratory complexes I and II and lipoic acid synthetase; pathogenic variants cause MMDS2 with lactic acidosis, hyperglycinemia, and cardiomyopathy
PMID: 40273865
4
BOLA3-GLRX5 and NFU1-ISCA1 nodes deliver Fe-S clusters to mitoribosomal assembly; BOLA3 mutations cause reduced mitochondrial protein synthesis
PMID: 37823603
5
BOLA3 regulates beige adipocyte thermogenesis by maintaining mitochondrial homeostasis and energy metabolism
PMID: 33505355
6
High BOLA3 expression correlates with poor prognosis and altered immune infiltration in lung adenocarcinoma
PMID: 35286914
Disease Associationsβ“˜21
multiple mitochondrial dysfunctions syndrome 2Open Targets
0.81Strong
Fatal multiple mitochondrial dysfunction syndrome type 2Open Targets
0.79Strong
Fatal multiple mitochondrial dysfunction syndromeOpen Targets
0.74Strong
mitochondrial diseaseOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.02Suggestive
Pallister-Hall syndromeOpen Targets
0.02Suggestive
prostate cancerOpen Targets
0.01Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
ovarian carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
fatal multiple mitochondrial dysfunctions syndromeOpen Targets
0.01Suggestive
cardiomyopathyOpen Targets
0.01Suggestive
leukodystrophyOpen Targets
0.01Suggestive
pulmonary hypertensionOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
LeukoencephalopathyOpen Targets
0.01Suggestive
muscle atrophyOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemiaUniProt
Pathogenic Variants7
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn)Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 67
NM_212552.3(BOLA3):c.136C>T (p.Arg46Ter)Pathogenic
Multiple mitochondrial dysfunctions syndrome 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 46
NM_212552.3(BOLA3):c.176G>A (p.Cys59Tyr)Pathogenic
not provided|Multiple mitochondrial dysfunctions syndrome 2|BOLA3-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 59
NM_212552.3(BOLA3):c.251T>C (p.Val84Ala)Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 2
β˜…β˜†β˜†β˜†2025β†’ Residue 84
NM_212552.3(BOLA3):c.259-1G>CLikely pathogenic
Multiple mitochondrial dysfunctions syndrome 2
β˜…β˜†β˜†β˜†2023
NM_212552.3(BOLA3):c.220_222del (p.Glu74del)Pathogenic
Multiple mitochondrial dysfunctions syndrome 2
β˜†β˜†β˜†β˜†2023β†’ Residue 74
NM_212552.3(BOLA3):c.123dup (p.Glu42fs)Pathogenic
Multiple mitochondrial dysfunctions syndrome 2
β˜†β˜†β˜†β˜†2011β†’ Residue 42
View on ClinVar β†—
Related Genes
NDUFA6Protein interaction100%FDX2Protein interaction99%BOLA2BProtein interaction99%BOLA1Protein interaction90%GLRX5Protein interaction87%NDUFAB1Protein interaction80%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
48%
Brain
40%
Liver
35%
Lung
25%
Ovary
16%
Gene Interaction Network
Click a node to explore
BOLA3NDUFA6FDX2BOLA2BBOLA1GLRX5NDUFAB1
PROTEIN STRUCTURE
Preparing viewer…
PDB2NCL Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.71LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.96 [0.55–1.71]
RankingsWhere BOLA3 stands among ~20K protein-coding genes
  • #11,295of 20,598
    Most Researched33
  • #3,242of 5,498
    Most Pathogenic Variants7
  • #16,159of 17,882
    Most Constrained (LOEUF)1.71
Genes detectedBOLA3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Reconstitution, characterization, and [2Fe-2S] cluster exchange reactivity of a holo human BOLA3 homodimer.
PMID: 31486956
J Biol Inorg Chem Β· 2019
1.00
2
Structural insights into the molecular function of human [2Fe-2S] BOLA1-GRX5 and [2Fe-2S] BOLA3-GRX5 complexes.
PMID: 28483642
Biochim Biophys Acta Gen Subj Β· 2017
0.90
3
Role of BOLA3 in the mitochondrial Fe-S cluster clarified by metabolomic analysis.
PMID: 40273865
Mol Genet Metab Β· 2025
0.80
4
BOLA3 as a key protein for the treatment of diabetic skeletal muscle atrophy.
PMID: 40850197
Int Immunopharmacol Β· 2025
0.70
5
BOLA3 is a prognostic-related biomarker and correlated with immune infiltrates in lung adenocarcinoma.
PMID: 35286914
Int Immunopharmacol Β· 2022
0.60