RAI1 : retinoic acid induced 1
Description
The RAI1 (retinoic acid induced 1) is a protein-coding gene located on chromosome 17.
The RAI1 gene provides instructions for making a protein that is active in cells throughout the body, particularly nerve cells (neurons) in the brain. Located in the nucleus of the cell, the RAI1 protein helps control the activity (expression) of certain genes. Most of the genes regulated by RAI1 have not been identified. However, studies suggest that this protein controls the expression of several genes involved in daily (circadian) rhythms, such as the sleep-wake cycle. The RAI1 protein also appears to play a role in development of the brain and of bones in the head and face (craniofacial bones).
The RAI1 gene encodes a protein that functions as a transcriptional regulator, influencing the activity of various genes involved in the circadian clock, including CLOCK, BMAL1, BMAL2, PER1/3, CRY1/2, NR1D1/2, and RORA/C. Notably, it positively regulates the activity of CLOCK, a key component of the circadian clock. This regulation is achieved through chromatin remodeling, where the RAI1 protein interacts with other chromatin-associated proteins and components of the basic transcriptional machinery. Furthermore, the protein potentially plays a crucial role in embryonic and postnatal development, including neuronal differentiation.
RAI1 is also known as SMCR, SMS.
Associated Diseases
- PMP22-RAI1 contiguous gene duplication syndrome
- 17p11.2 microduplication syndrome
- Smith-Magenis syndrome
- Potocki-Lupski syndrome
- Yuan-Harel-Lupski syndrome
