Identity
HGNC
LOCATION
Xp11.3
LOCUSID
ALIAS
CI-ESSS,ESSS,MC1DN30,NP17.3,Np15,P17.3
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: 54539
MIM: 300403
HGNC: 20372
Ensembl: ENSG00000147123
Variants:
dbSNP: 54539
ClinVar: 54539
TCGA: ENSG00000147123
COSMIC: NDUFB11
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000147123 | ENST00000276062 | Q9NX14 |
| ENSG00000147123 | ENST00000377811 | Q9NX14 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36675256 | 2023 | A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. | 4 |
| 37642954 | 2023 | NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress. | 1 |
| 36675256 | 2023 | A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene. | 4 |
| 37642954 | 2023 | NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress. | 1 |
| 30423443 | 2019 | Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11. | 14 |
| 30423443 | 2019 | Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11. | 14 |
| 27102574 | 2017 | A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. | 9 |
| 27102574 | 2017 | A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. | 9 |
| 27488349 | 2016 | A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. | 13 |
| 27488349 | 2016 | A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. | 13 |
| 25772934 | 2015 | Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. | 29 |
| 25921236 | 2015 | Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy. | 10 |
| 25772934 | 2015 | Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. | 29 |
| 25921236 | 2015 | Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy. | 10 |
| 23246602 | 2013 | The mechanism of alternative splicing of the X-linked NDUFB11 gene of the respiratory chain complex I, impact of rotenone treatment in neuroblastoma cells. | 7 |
Citation
Dessen P
NDUFB11 (NADH:ubiquinone oxidoreductase subunit B11)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70771
