Developmental Brain Disorder Gene Database
LoF Variant Gene
- Unique Cases:
- ID, ASD, EP
- Last Updated:
- May 1, 2021
- DBD Genes Classification
- RORB is an Emerging candidate gene classified as Tier 3. Tier 3 genes have one de novo pathogenic loss-of-function variants.
- Gene Function
- Nuclear receptor that binds DNA as a monomer to ROR response elements (RORE) containing a single core motif half-site 5'-AGGTCA-3' preceded by a short A-T-rich sequence. Considered to have intrinsic transcriptional activity, have some natural ligands such as all-trans retinoic acid (ATRA) and other retinoids which act as inverse agonists repressing the transcriptional activity. Required for normal postnatal development of rod and cone photoreceptor cells. Modulates rod photoreceptors differentia... (Source: Uniprot)
- Previous symbols
- No previous symbols
- Alias symbols
- RZRB, NR1F2, ROR-BETA
- Chromosomal Location
- Genomic Coordinates
- Associated Disorders
- Intellectual Disability, Autism, Epilepsy
|Lal D et. al., Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies., PLoS Genet, 2015|
|Rudolf G et. al., Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy., Eur J Hum Genet, 2016|
|Munnich A et. al., Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder., Mol Autism, 2019|
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