TXNL1
Chr 18thioredoxin like 1
Also known as: HEL-S-114, TRP32, TXL-1, TXNL, Txl
The protein functions as a disulfide oxidoreductase in the cytosol and is highly constrained against loss-of-function variants (pLI 0.89, LOEUF 0.40). Mutations in TXNL1 cause autosomal recessive intellectual disability with seizures and spasticity. The gene's high constraint scores suggest that heterozygous loss-of-function variants are likely tolerated, consistent with the recessive inheritance pattern observed in affected individuals.
Some data sources returned errors (1)
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
108 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 | 63 | 0 | 63 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 25 | 2 | 0 | 27 |
Likely Benign | 0 | 0 | 0 | 1 | 1 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 0 | 25 | 68 | 2 | 95 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TXNL1 · 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