Identity
HGNC
LOCATION
1q42.13
LOCUSID
ALIAS
C1orf69,MMDS3,SPG74
FUSION GENES
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: 200205
MIM: 615316
HGNC: 27302
Ensembl: ENSG00000181873
Variants:
dbSNP: 200205
ClinVar: 200205
TCGA: ENSG00000181873
COSMIC: IBA57
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000181873 | ENST00000366711 | Q5T440 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31831856 | 2019 | Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the mitochondrial iron-sulfur cluster assembly machinery. | 14 |
| 31831856 | 2019 | Structural properties of [2Fe-2S] ISCA2-IBA57: a complex of the mitochondrial iron-sulfur cluster assembly machinery. | 14 |
| 28671726 | 2018 | Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy. | 11 |
| 30258207 | 2018 | Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. | 9 |
| 28671726 | 2018 | Phenotypic spectrum of mutations in IBA57, a candidate gene for cavitating leukoencephalopathy. | 11 |
| 30258207 | 2018 | Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. | 9 |
| 27785568 | 2017 | Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. | 20 |
| 27785568 | 2017 | Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. | 20 |
| 25609768 | 2015 | Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. | 34 |
| 25609768 | 2015 | Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. | 34 |
| 23462291 | 2013 | Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. | 52 |
| 23462291 | 2013 | Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. | 52 |
| 22323289 | 2012 | The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation. | 87 |
| 22323289 | 2012 | The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation. | 87 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
Citation
Dessen P
IBA57 (iron-sulfur cluster assembly factor IBA57)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64487/gene-explorer/meetings/
