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: 55037
MIM: 614918
HGNC: 24717
Ensembl: ENSG00000132300
Variants:
dbSNP: 55037
ClinVar: 55037
TCGA: ENSG00000132300
COSMIC: PTCD3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36450274 | 2023 | Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. | 5 |
| 36450274 | 2023 | Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. | 5 |
| 30607703 | 2019 | Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. | 32 |
| 30607703 | 2019 | Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome. | 32 |
| 30132530 | 2018 | Elevated expression of PTCD3 correlates with tumor progression and predicts poor prognosis in patients with prostate cancer. | 0 |
| 30132530 | 2018 | Elevated expression of PTCD3 correlates with tumor progression and predicts poor prognosis in patients with prostate cancer. | 0 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 19427859 | 2009 | Pentatricopeptide repeat domain protein 3 associates with the mitochondrial small ribosomal subunit and regulates translation. | 52 |
| 19427859 | 2009 | Pentatricopeptide repeat domain protein 3 associates with the mitochondrial small ribosomal subunit and regulates translation. | 52 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19427859 | 2009 | Pentatricopeptide repeat domain protein 3 associates with the mitochondrial small ribosomal subunit and regulates translation. | 52 |
| 19427859 | 2009 | Pentatricopeptide repeat domain protein 3 associates with the mitochondrial small ribosomal subunit and regulates translation. | 52 |
Citation
Dessen P
PTCD3 (pentatricopeptide repeat domain 3)
Atlas Genet Cytogenet Oncol Haematol. 2009-08-01
Online version: http://atlasgeneticsoncology.org/gene/50990/ptcd3
