BOLA3 (bolA family member 3)

2016-10-01  

Identity

HGNC
LOCATION
2p13.1
LOCUSID
ALIAS
MMDS2
FUSION GENES

Other Information

Locus ID:

NCBI: 388962
MIM: 613183
HGNC: 24415
Ensembl: ENSG00000163170

Variants:

dbSNP: 388962
ClinVar: 388962
TCGA: ENSG00000163170
COSMIC: BOLA3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163170ENST00000295326Q53S33
ENSG00000163170ENST00000327428Q53S33

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
375114932023Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3.0
378236032023BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.2
375114932023Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3.0
378236032023BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome.2
352869142022BOLA3 is a prognostic-related biomarker and correlated with immune infiltrates in lung adenocarcinoma.2
352869142022BOLA3 is a prognostic-related biomarker and correlated with immune infiltrates in lung adenocarcinoma.2
340636962021Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.5
340636962021Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.5
317248212020A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis.25
317248212020A pathway for assembling [4Fe-4S](2+) clusters in mitochondrial iron-sulfur protein biogenesis.25
307599962019BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension.42
314869562019Reconstitution, characterization, and [2Fe-2S] cluster exchange reactivity of a holo human BOLA3 homodimer.2
307599962019BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension.42
314869562019Reconstitution, characterization, and [2Fe-2S] cluster exchange reactivity of a holo human BOLA3 homodimer.2
243342902014Variant 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/gene-explorer/img/favicon/apple-touch-icon.png