HRASLS2
HRASLS2: The Gene and Its Role in Human Health
Description
HRASLS2 is a gene located on chromosome 11p15.5 in humans. It encodes a protein called HRAS-like suppressor 2, which plays a crucial role in various cellular processes, including cell growth, differentiation, and metabolism. HRASLS2 belongs to the RAS superfamily of proteins, known for their involvement in signal transduction pathways.
Associated Diseases
Mutations in the HRASLS2 gene have been associated with several human diseases, including:
- Noonan syndrome: A genetic disorder characterized by distinctive facial features, short stature, and heart defects.
- Costello syndrome: A similar disorder to Noonan syndrome, with additional features such as coarse facial features and intellectual disability.
- Cardiomyopathy: A disease affecting the heart muscle, leading to heart failure.
- Leukemia: A cancer of the blood cells.
- Neurofibromatosis type 1: A genetic disorder characterized by the formation of tumors along the nerves.
Did you Know ?
Approximately 1 in 50,000 people are affected by Noonan syndrome, the most common disease associated with HRASLS2 mutations.
