Ensembl is currently experiencing issues

The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.

You can check Ensembl's status at status.ensembl.org

IDLDP

Chr 2AD

nuclear receptor subfamily 4 group A member 2

Also known as: HZF-3, IDLDP, NOT, NURR1, RNR1, TINUR

NCBI Gene: 4929 OMIM: 619911

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcription factor. Mutations in this gene have been associated with disorders related to dopaminergic dysfunction, including Parkinson disease, schizophernia, and manic depression. Misregulation of this gene may be associated with rheumatoid arthritis. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonismMIM #619911

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

📖

GeneReview available — IDLDP