Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 388962
MIM: 613183
HGNC: 24415
Ensembl: ENSG00000163170
Variants:
dbSNP: 388962
ClinVar: 388962
TCGA: ENSG00000163170
COSMIC: BOLA3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000163170 | ENST00000295326 | Q53S33 |
| ENSG00000163170 | ENST00000327428 | Q53S33 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37511493 | 2023 | Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3. | 0 |
| 37823603 | 2023 | BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome. | 2 |
| 37511493 | 2023 | Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3. | 0 |
| 37823603 | 2023 | BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome. | 2 |
| 35286914 | 2022 | BOLA3 is a prognostic-related biomarker and correlated with immune infiltrates in lung adenocarcinoma. | 2 |
| 35286914 | 2022 | BOLA3 is a prognostic-related biomarker and correlated with immune infiltrates in lung adenocarcinoma. | 2 |
| 34063696 | 2021 | Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation. | 5 |
| 34063696 | 2021 | Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation. | 5 |
| 31724821 | 2020 | A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis. | 25 |
| 31724821 | 2020 | A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis. | 25 |
| 30759996 | 2019 | BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension. | 42 |
| 31486956 | 2019 | Reconstitution, characterization, and [2Fe-2S] cluster exchange reactivity of a holo human BOLA3 homodimer. | 2 |
| 30759996 | 2019 | BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension. | 42 |
| 31486956 | 2019 | Reconstitution, characterization, and [2Fe-2S] cluster exchange reactivity of a holo human BOLA3 homodimer. | 2 |
| 24334290 | 2014 | Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. | 84 |
Citation
Dessen P
BOLA3 (bolA family member 3)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56328/bola3-(bola-family-member-3)
