Identity
HGNC
LOCATION
2q35
LOCUSID
ALIAS
BCS,BCS1,BJS,FLNMS,GRACILE,Hs.6719,MC3DN1,PTD,h-BCS,h-BCS1
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: 617
MIM: 603647
HGNC: 1020
Ensembl: ENSG00000074582
Variants:
dbSNP: 617
ClinVar: 617
TCGA: ENSG00000074582
COSMIC: BCS1L
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Metabolism of proteins | REACTOME | R-HSA-392499 |
| Mitochondrial protein import | REACTOME | R-HSA-1268020 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38821922 | 2024 | Conformations of Bcs1L undergoing ATP hydrolysis suggest a concerted translocation mechanism for folded iron-sulfur protein substrate. | 0 |
| 38821922 | 2024 | Conformations of Bcs1L undergoing ATP hydrolysis suggest a concerted translocation mechanism for folded iron-sulfur protein substrate. | 0 |
| 34650211 | 2022 | BCS1L mutations produce Fanconi syndrome with developmental disability. | 0 |
| 34650211 | 2022 | BCS1L mutations produce Fanconi syndrome with developmental disability. | 0 |
| 34274978 | 2021 | Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster. | 0 |
| 34662929 | 2021 | Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. | 8 |
| 34274978 | 2021 | Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster. | 0 |
| 34662929 | 2021 | Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease. | 8 |
| 30582773 | 2019 | Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. | 16 |
| 31435670 | 2019 | Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. | 11 |
| 30582773 | 2019 | Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. | 16 |
| 31435670 | 2019 | Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. | 11 |
| 28322498 | 2017 | Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. | 2 |
| 28322498 | 2017 | Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. | 2 |
| 26563427 | 2016 | A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. | 4 |
Citation
Dessen P
BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/784/bcs1l
