BOLA2
Chr 16bolA family member 2
Also known as: BOLA2A, My016
BOLA2 encodes a cytosolic iron-sulfur cluster assembly factor that facilitates [2Fe-2S] cluster insertion into cytosolic proteins, working together with the monothiol glutaredoxin GLRX3. Mutations cause multiple mitochondrial dysfunctions syndrome 2, an autosomal recessive disorder characterized by early-onset mitochondrial dysfunction affecting multiple organ systems. The gene is located within a segmental duplication region on chromosome 16 and has high sequence similarity to BOLA2B.
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
89 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 70 |
Likely Pathogenic | — | — | — | — | 7 |
VUS | — | — | — | — | 9 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 2 |
| Total | — | 88 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
BOLA2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools