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
219440462011Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.84
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
243342902014Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.50
147186562004Solution structure of a BolA-like protein from Mus musculus.22
185482012008hBolA, novel non-classical secreted proteins, belonging to different BolA family with functional divergence.9
225626992013Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.0
307599962019BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension.0

Citation

Dessen P

BOLA3 (bolA family member 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56328/bola3