USP9X
Chr XXLRXLDubiquitin specific peptidase 9 X-linked
Also known as: DFFRX, FAF, FAF-X, FAM, MRX99, MRXS99F, XLID99, hFAM
The protein is a ubiquitin-specific protease that removes ubiquitin from target proteins in the cytoplasm. Loss-of-function mutations cause X-linked intellectual developmental disorder 99, which can present as either a syndromic female-restricted form or a non-syndromic form affecting both males and females. The inheritance pattern can be either X-linked recessive or X-linked dominant depending on the specific mutation and clinical presentation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Extremely missense-constrained (top ~0.01%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
USP9X · 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
External Resources
Links to major genomics databases and tools