ESX1
Chr XADARESX homeobox 1
Also known as: ESX1L, ESXR1
The ESX1 protein functions as a transcriptional repressor and cell cycle regulator that undergoes proteolytic cleavage to produce nuclear and cytoplasmic fragments involved in controlling cyclin degradation and gene expression. Mutations cause amelogenesis imperfecta type IV, trichodontoosseous syndrome, and metaphyseal anadysplasia 2, affecting dental enamel formation, hair and tooth development, and bone growth. Both autosomal dominant and autosomal recessive inheritance patterns are reported.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ESX1 · 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