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IDDABS
Chr 7ARpseudouridine synthase 7
Also known as: IDDABS
The protein functions as a tRNA pseudouridine synthase that modifies tRNA at position 13 and regulates hematopoietic stem cell differentiation and mesoderm development in the nucleus. Biallelic mutations cause intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, following autosomal recessive inheritance. This condition affects both neurodevelopment and growth, with microcephaly indicating early developmental brain involvement.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/IDDABS?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
IDDABS · 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 →No open access results found
External Resources
Links to major genomics databases and tools