BEX1
Chr Xbrain expressed X-linked 1
Also known as: BEX2, HBEX2, HGR74-h
The BEX1 protein functions as a signaling adapter in p75NTR/NGFR neurotrophin receptor signaling and serves as a transcriptional regulator that modulates neuronal differentiation and cell cycle progression. Mutations in BEX1 cause X-linked intellectual disability with seizures and behavioral abnormalities, affecting primarily males with onset in early childhood. The gene shows moderate constraint against loss-of-function variants, and carrier females may exhibit milder symptoms due to X-inactivation.
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 gain-of-function.
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
BEX1 · 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