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: 83636
MIM: 614297
HGNC: 25443
Ensembl: ENSG00000131943
Variants:
dbSNP: 83636
ClinVar: 83636
TCGA: ENSG00000131943
COSMIC: C19orf12
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36863113 | 2023 | A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration. | 0 |
| 37004026 | 2023 | A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone. | 3 |
| 36863113 | 2023 | A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration. | 0 |
| 37004026 | 2023 | A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone. | 3 |
| 35182730 | 2022 | C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration. | 6 |
| 35188090 | 2022 | Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up. | 1 |
| 35182730 | 2022 | C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration. | 6 |
| 35188090 | 2022 | Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up. | 1 |
| 33260061 | 2021 | Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. | 5 |
| 33394258 | 2021 | SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review. | 0 |
| 33260061 | 2021 | Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. | 5 |
| 33394258 | 2021 | SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review. | 0 |
| 31518459 | 2020 | Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration. | 7 |
| 32932022 | 2020 | Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12? | 1 |
| 31518459 | 2020 | Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration. | 7 |
Citation
Dessen P
C19orf12 (chromosome 19 open reading frame 12)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61021/c19orf12-(chromosome-19-open-reading-frame-12)
