RARS
RARs Gene: A Comprehensive Guide
Description
The RARs (retinoic acid receptors) gene is located on human chromosome 17 and encodes three types of nuclear hormone receptors: RARα, RARβ, and RARγ. These receptors bind to retinoic acid (RA), a vitamin A derivative, and mediate its biological effects. RA plays a crucial role in various cellular processes, including embryonic development, cellular differentiation, and apoptosis.
Associated Diseases
RARs gene mutations have been linked to a range of health conditions, including:
- Retinoid Acid Embryopathy: Occurs when pregnant women are exposed to high levels of RA, resulting in birth defects such as facial abnormalities, cardiovascular malformations, and mental disabilities.
- Leukemia: Some types of leukemia, such as acute promyelocytic leukemia (APL), are associated with specific RARs gene mutations.
- Skin Diseases: RARs gene mutations can contribute to skin disorders such as psoriasis and eczema.
- Diabetes: RARα has been implicated in glucose metabolism and insulin resistance, potentially linking it to the development of type 2 diabetes.
- Neurological Disorders: RARs have been found to play a role in brain development and function, and mutations in the RARs gene have been linked to conditions such as autism spectrum disorder and Alzheimer's disease.
Did you Know ?
RARα is the only one of the three RARs subtypes that is essential for viability in mice. Mice lacking RARα die during embryonic development due to severe cardiovascular defects. This highlights the critical role of RARα in early development.
