FTSJ1
Chr XXLRFtsJ RNA 2'-O-methyltransferase 1
Also known as: CDLIV, JM23, MRX44, MRX9, SPB1, TRMT7, XLID9
This highly constrained gene encodes a methyltransferase that modifies specific nucleotides in the anticodon loop of tRNAs, which is essential for accurate protein synthesis. Mutations cause X-linked intellectual developmental disorder, with males affected due to X-linked recessive inheritance. The protein's critical role in cytoplasmic translation and neurogenesis explains the neurodevelopmental phenotype observed in affected individuals.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
pubtator: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
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
FTSJ1 · 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