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: 391356
MIM: 617342
HGNC: 33782
Ensembl: ENSG00000184924
Variants:
dbSNP: 391356
ClinVar: 391356
TCGA: ENSG00000184924
COSMIC: PTRHD1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000184924 | ENST00000328379 | Q6GMV3 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35848037 | 2022 | Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the Chinese Population. | 0 |
| 35848037 | 2022 | Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the Chinese Population. | 0 |
| 33004232 | 2021 | Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson's disease in a Taiwanese population. | 3 |
| 34246528 | 2021 | Analysis of PTRHD1 common and rare variants in European patients with Parkinson's disease. | 0 |
| 33004232 | 2021 | Lack of PTRHD1 mutation in patients with young-onset and familial Parkinson's disease in a Taiwanese population. | 3 |
| 34246528 | 2021 | Analysis of PTRHD1 common and rare variants in European patients with Parkinson's disease. | 0 |
| 27753167 | 2017 | PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism. | 14 |
| 27753167 | 2017 | PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism. | 14 |
Citation
Dessen P
PTRHD1 (peptidyl-tRNA hydrolase domain containing 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72396/ptrhd1-(peptidyl-trna-hydrolase-domain-containing-1)
