DNAJC11
Chr 1DnaJ heat shock protein family (Hsp40) member C11
Also known as: dJ126A5.1
DNAJC11 encodes a protein required for mitochondrial inner membrane organization through its association with the MICOS complex and mitochondrial outer membrane sorting assembly machinery. Mutations cause autosomal recessive mitochondrial disorders affecting multiple organ systems. This gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
150 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 | 0 | 0 | 54 | 0 | 54 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 60 | 7 | 0 | 67 |
Likely Benign | 0 | 1 | 1 | 0 | 2 |
Benign | 0 | 0 | 2 | 2 | 4 |
| Total | 0 | 61 | 65 | 2 | 128 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DNAJC11 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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