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: 79912
MIM: 617220
HGNC: 26162
Ensembl: ENSG00000121350
Variants:
dbSNP: 79912
ClinVar: 79912
TCGA: ENSG00000121350
COSMIC: PYROXD1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36920481 | 2023 | Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders. | 0 |
| 36920481 | 2023 | Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders. | 0 |
| 33694278 | 2021 | Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey. | 2 |
| 33930333 | 2021 | The oxidoreductase PYROXD1 uses NAD(P)(+) as an antioxidant to sustain tRNA ligase activity in pre-tRNA splicing and unfolded protein response. | 12 |
| 33694278 | 2021 | Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey. | 2 |
| 33930333 | 2021 | The oxidoreductase PYROXD1 uses NAD(P)(+) as an antioxidant to sustain tRNA ligase activity in pre-tRNA splicing and unfolded protein response. | 12 |
| 32037607 | 2020 | Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing. | 3 |
| 32037607 | 2020 | Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing. | 3 |
| 30515627 | 2019 | Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy. | 7 |
| 31502705 | 2019 | A siRNA-based method for efficient silencing of PYROXD1 gene expression in the colon cancer cell line HCT116. | 3 |
| 30515627 | 2019 | Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy. | 7 |
| 31502705 | 2019 | A siRNA-based method for efficient silencing of PYROXD1 gene expression in the colon cancer cell line HCT116. | 3 |
| 30345904 | 2018 | Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. | 10 |
| 30345904 | 2018 | Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. | 10 |
| 27745833 | 2016 | Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization. | 26 |
Citation
Dessen P
PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72432/pyroxd1-(pyridine-nucleotide-disulphide-oxidoreductase-domain-1)
