IDLDP
Chr 2ADnuclear receptor subfamily 4 group A member 2
Also known as: HZF-3, IDLDP, NOT, NURR1, RNR1, TINUR
The encoded protein is a transcription factor belonging to the steroid-thyroid hormone-retinoid receptor superfamily. Mutations cause intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, inherited in an autosomal dominant pattern. This condition affects both neurodevelopmental and movement disorder domains, with dystonia-parkinsonism symptoms appearing in early life and showing responsiveness to DOPA therapy.
Primary Disease Associations & Inheritance
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/IDLDP?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
IDLDP · 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.
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External Resources
Links to major genomics databases and tools