NR4A2
Description
The NR4A2 (nuclear receptor subfamily 4 group A member 2) is a protein-coding gene located on chromosome 2.
NR4A2, also known as NURR1, is a protein encoded by the NR4A2 gene in humans. It's a member of the nuclear receptor family of intracellular transcription factors. NR4A2 is crucial for maintaining the dopaminergic system in the brain. Mutations in this gene have been linked to disorders related to dopaminergic dysfunction, including Parkinson's disease and schizophrenia. Misregulation of this gene may also be associated with rheumatoid arthritis. NR4A2 is thought to be critical for the development of the dopamine phenotype in the midbrain, as mice lacking NR4A2 lack this phenotype. Studies show that forcing NR4A2 expression in naïve precursor cells leads to complete dopamine phenotype gene expression. Although NR4A2 is a key protein, other factors are required for this phenotypic gene expression.
NR4A2 is a transcriptional regulator essential for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. It is crucial for the expression of genes like SLC6A3, SLC18A2, TH, and DRD2, which are vital for mdDA neuron development.
NR4A2 is also known as HZF-3, IDLDP, NOT, NURR1, RNR1, TINUR.
Associated Diseases
- Parkinson disease, late-onset
- 2q24 microdeletion syndrome
- Autosomal dominant dopa-responsive dystonia
- Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
