BOLA3 Chromosome 2
BolA family member 3
Upload your DNA to see your personal genotypes for variants in BOLA3.
What This Gene Does
This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Mitochondrial iron-sulfur assembly components
Locus Type
gene with protein product
Location
2p13.1
Ensembl
ENSG00000163170
Associated Conditions (2)
Multiple mitochondrial dysfunctions syndrome 2
BOLA3-related disorder
Key Variants
RS144366005
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 2, BOLA3-related disorder, Multiple mitochondrial dysfunctions syndrome 2
Health Risk
RS150626228
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 2, BOLA3-related disorder, Multiple mitochondrial dysfunctions syndrome 2
Health Risk
RS201380456
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
Health Risk
RS565294723
Conflicting classifications of pathogenicity
Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
Health Risk
RS2528311007
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
Health Risk
RS550855238
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
Health Risk
RS143492730
Pathogenic
Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
Health Risk
RS869320737
Pathogenic
Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
Health Risk
RS1209052568
Pathogenic/Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
Health Risk
RS772014561
Pathogenic/Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 2, BOLA3-related disorder, Multiple mitochondrial dysfunctions syndrome 2
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144366005 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 2, BOLA3-related disorder, Multiple mitochondrial dysfunctions syndrome 2 |
| RS150626228 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 2, BOLA3-related disorder, Multiple mitochondrial dysfunctions syndrome 2 |
| RS201380456 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2 |
| RS565294723 | Health Risk | Conflicting classifications of pathogenicity | Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2 |
| RS2528311007 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2 |
| RS550855238 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2 |
| RS143492730 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2 |
| RS869320737 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2 |
| RS1209052568 | Health Risk | Pathogenic/Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2 |
| RS772014561 | Health Risk | Pathogenic/Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 2, BOLA3-related disorder, Multiple mitochondrial dysfunctions syndrome 2 |