TXNDC17
Chr 17thioredoxin domain containing 17
Also known as: TRP14, TXNL5
The protein functions as a disulfide reductase with peroxidase activity, catalyzing redox reactions and modulating TNF signaling pathways while helping eliminate cellular hydrogen peroxide. Mutations cause autosomal recessive intellectual disability with seizures and spasticity, typically presenting in early childhood. This condition primarily affects the central nervous system with developmental and neurological manifestations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
61 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 | 19 | 0 | 19 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 20 | 6 | 0 | 26 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 1 | 0 | 1 | 2 |
| Total | 0 | 21 | 26 | 1 | 48 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TXNDC17 · 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