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: 494513
MIM: 610219
HGNC: 29502
Ensembl: ENSG00000204311
Variants:
dbSNP: 494513
ClinVar: 494513
TCGA: ENSG00000204311
COSMIC: PJVK
RNA/Proteins
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35052489 | 2022 | Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder. | 8 |
| 35052489 | 2022 | Novel Pathogenic Variants in PJVK, the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder. | 8 |
| 30582396 | 2019 | Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss. | 5 |
| 30582396 | 2019 | Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss. | 5 |
| 28964305 | 2017 | Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families. | 10 |
| 28964305 | 2017 | Homozygous mutations in PJVK and MYO15A genes associated with non-syndromic hearing loss in Moroccan families. | 10 |
| 25631766 | 2015 | Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations. | 3 |
| 26166082 | 2015 | Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. | 32 |
| 26544938 | 2015 | Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes. | 90 |
| 25631766 | 2015 | Identification of a novel mutation of PJVK in the Chinese non-syndromic hearing loss population with low prevalence of the PJVK mutations. | 3 |
| 26166082 | 2015 | Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. | 32 |
| 26544938 | 2015 | Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes. | 90 |
| 21696384 | 2012 | High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel. | 8 |
| 22617256 | 2012 | A p.C343S missense mutation in PJVK causes progressive hearing loss. | 15 |
| 21696384 | 2012 | High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel. | 8 |
Citation
Dessen P
PJVK (pejvakin)
Atlas Genet Cytogenet Oncol Haematol. 2017-09-01
Online version: http://atlasgeneticsoncology.org/gene/79555/pjvk-(pejvakin)
