RRM1

RORA

The RORA gene encodes the RAR-related orphan receptor alpha, a member of the nuclear receptor family of intracellular transcription factors. This protein plays a crucial role in various biological processes, including the regulation of circadian rhythm, immune function, and metabolism.

Structure

RORA is a nuclear receptor that contains a DNA-binding domain (DBD) and a ligand-binding domain (LBD). The DBD is responsible for binding to specific DNA sequences known as ROR response elements (ROREs), while the LBD is involved in the regulation of transcriptional activity through ligand binding and interaction with co-regulators.

Function

RORA functions as a transcription factor that regulates the expression of genes involved in several physiological processes:

• Circadian Rhythm: RORA is a key regulator of the circadian clock, influencing the expression of core clock genes such as BMAL1 and CLOCK. It helps maintain the body's internal biological clock, which is crucial for synchronizing various physiological processes with the day-night cycle.

• Immune System: RORA plays a role in the development and function of the immune system. It is involved in the differentiation of T helper 17 (Th17) cells, which are important for the immune response against pathogens.

• Metabolism: RORA influences lipid metabolism and energy homeostasis. It regulates the expression of genes involved in lipid storage and glucose metabolism, impacting conditions such as obesity and diabetes.

Clinical Significance

Mutations or dysregulation of the RORA gene have been associated with several disorders:

• Neurological Disorders: Alterations in RORA expression have been linked to autism spectrum disorders and other neurodevelopmental conditions.

• Metabolic Disorders: Given its role in metabolism, RORA is implicated in metabolic syndrome, obesity, and type 2 diabetes.

• Autoimmune Diseases: Due to its involvement in immune regulation, RORA may play a role in autoimmune diseases such as multiple sclerosis and rheumatoid arthritis.

Research

Ongoing research is exploring the potential of targeting RORA for therapeutic purposes. Modulating RORA activity could provide new avenues for treating circadian rhythm disorders, metabolic diseases, and immune-related conditions.

Also see

• Nuclear Receptor
• Circadian Rhythm
• Immune System
• Metabolism
• Transcription Factor