PJVK
Chr 2ARpejvakin
Also known as: DFNB59
The protein encoded by PJVK is a peroxisome-associated protein that protects auditory hair cells against noise-induced damage by regulating peroxisome proliferation and promoting autophagy of oxidatively damaged peroxisomes. Mutations cause autosomal recessive non-syndromic sensorineural hearing loss (DFNB59). The gene shows low constraint to loss-of-function variants, consistent with its autosomal recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
234 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 22 | 2 | 14 | 0 | 38 |
Likely Pathogenic | 11 | 1 | 3 | 1 | 16 |
VUS | 1 | 58 | 6 | 0 | 65 |
Likely Benign | 0 | 3 | 34 | 66 | 103 |
Benign | 0 | 0 | 2 | 0 | 2 |
Conflicting | — | 9 | |||
| Total | 34 | 64 | 59 | 67 | 233 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PJVK · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools